Centrum Menselijke Erfelijkheid - KUL

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Name of the laboratory:	Centrum Menselijke Erfelijkheid - KUL
Abbreviation:	KUL
Institute name:	University Hospitals Leuven-Gasthuisberg
Abbreviation institute:	KUL
RIZIV number:	82499092-996
Address:	Herestraat, 49 bus 606 3000 Leuven Flemish Brabant Belgium
Telephone:	0032 1 634 5903
Fax:	0032 1 634 6060
E-mail:	cme@uzleuven.be
URL:	https://www.uzleuven.be/nl/centrum-menselijke-erfelijkheid https://ng3.economie.fgov.be/NI/belac/medilabs/scope_pdf/215-MED.pdf https://laboboeken.nexuzhealth.com/toc/pboek/internet/GHB%20CME https://www.uzleuven.be/nl/centrum-menselijke-erfelijkheid/constitutionele-test…
EQA:	2021 DNA Sequencing – NGS (vGermline) EMQN 2016 DNA Sequencing – NGS (vGermline) EMQN 2018 DNA Sequencing – NGS (vGermline) EMQN 2019 DNA Sequencing – NGS (vGermline) EMQN 2015 DNA Sequencing - Sanger EMQN 2016 DNA Sequencing - Sanger EMQN 2017 DNA Sequencing - Sanger EMQN 2018 DNA Sequencing - Sanger EMQN 2019 DNA Sequencing - Sanger EMQN
Created:	09 May 2018 - 08:28
Changed:	09 Sep 2022 - 09:31

Related Genetic Tests

• Agammaglobulinemia
• Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
• Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val )
• Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
• Alzheimer disease (3 genes)
• Amyloidosis (full sanger screening of the 4 exons for TTR)
• Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
• Amyotrophic lateral sclerosis (gene panel)
• Angelman / Prader Willi Syndrome
• Ataxia (gene panel)
• Autoimmune disease, multisystem, infantile-onset (ADMIO) / Hyper-IgE recurrent infection syndrome
• Autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome type 1A
• Autoimmune lymphoproliferative syndrome, type V
• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
• Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
• BAP1 Syndrome
• Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
• Beckwith-Wiedemann syndrome
• Birt-Hogg-Dubé syndrome
• Bloom syndrome
• Breast and Ovarian Cancer, HBOC, Familial (gene panel)
• CANVAS disease - repeat in RFC1 gene
• Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
• Cardiopathies, hereditary (gene panel)
• Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
• Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
• Child Interstitial Lung Disease (child - gene panel)
• Chronic granulomatous disease, X-linked
• Coeliac disease (HLA-DQ2, HLA-DQ8) - Pharmacogenetics
• Colorectal cancer / Polyposis (gene panel)
• Combined immunodeficiency (severe), X-linked
• Congenital disorder of glycosylation (3 genes)
• Congenital disorders of glycosylation (79 genes)
• Congenital hemangioma (2 genes)
• Constitutional Mismatch Repair Deficiency Syndrome (4 genes)
• Constitutional Mismatch Repair Deficiency Syndrome + Bloom syndrome (5 genes)
• Cowden disease (3 genes)
• Craniosynostosis (gene panel)
• Cystic Fibrosis / Congenital absence of the vas deferens / related disorders (50 hot spot mutations)
• Cystic Fibrosis / related disorder
• DICER1 Syndrome
• Developmental disorders: intellectual disability and multiple congenital anomalies (gene panel)
• Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
• Dyskeratosis Congenita (gene panel)
• Dystonia (gene panel)
• Emberger syndrome / Immunodeficiency 21
• Endometrial cancer (gene panel)
• Epidermal nevus syndrome (gene panel)
• Epidermolysis bullosa (gene panel)
• Episodic ataxia 2
• FMR1-premutation instability
• Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
• Familial hemiplegic Migraine (gene panel)
• Fragile X syndrome/POF/FXTAS - CGG repeat expansion
• Friedreich ataxia - GAA repeat expansion
• Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel)
• Gastric Cancer (10 genes)
• Genetic disorders of Calcium and Phosphate metabolism (gene panel)
• Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)
• Gorlin syndrome (PTCH1; SUFU genes)
• Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
• Hemophilia A
• Hemophilia B
• Hereditary Spastic Paraplegia (94 genes)
• Hirschsprung disease
• Huntington disease - CAG repeat expansion
• Hypercholesterolemia, Familial (4 genes)
• Hypermethylation promoter MLH1 and p.V600 of BRAF1
• Hyperparathyroidism (gene panel)
• Hypocalciuric Hypercalcemia, Neonatal Severe Hyperparathyroidism, Hypocalcemia
• Ichthyosis (gene panel)
• Immune deficiency with hyperIgM, type 3
• Immune deficiency, X-linked, with hyperIgM
• Immunodeficiency - Activated PI3K-delta syndrome
• Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
• Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome
• Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
• Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
• Kidney cancer (Renal cell carcinoma and transitional cell carcinoma (TCC) renal pelvis) (gene panel)
• Kidney cancer (renal cell carcinoma) (gene panel)
• Li-Fraumeni syndrome
• Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease
• Lymphoproliferative syndrome, X-linked (XIAP gene)
• Malignant Mesothelioma (BAP1; CDKN2A genes)
• Mc Cune Albright
• Medulloblastoma (gene panel)
• Melanoma / Familial Atypical Multiple Mole Melanoma Syndrome (gene panel)
• Meningioma (gene panel)
• Metastatic Breast or Pancreatic Cancer
• Microsatellite instability analysis
• Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes)
• Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
• Narcolepsy (HLA-DQB1*0602 Genotyping) - Pharmacogenetics
• Nephropathies, hereditary (gene panel)
• Neuroendocrine tumor (NET) (gene panel)
• Neurofibromatosis type 1 / Legius syndrome (2 genes)
• Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
• Nijmegen Breakage Syndrome
• Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
• Noonan syndrome (Screening PTPN11)
• Oculopharyngeal Muscular Dystrophy - GCN repeats expansion
• Osteogenesis Imperfecta (gene panel)
• Overgrowth & vascular anomalies / CLOVES syndrome
• Overgrowth & vascular anomalies / Proteus syndrome (c.49G>A (p.Glu17Lys) mutation)
• Pancreatic cancer (gene panel)
• Paraganglioma-pheochromocytoma (gene panel)
• Parkinson (gene panel)
• Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
• Primary Arterial Hypertension (gene panel)
• Primary Ciliary Dyskinesia (50 genes)
• Primary immune deficiencies (gene panel)
• Prostate Cancer (3 genes)
• Pulmonary Fibrosis (gene panel) + rs35705950 of MUC5B gene
• RASopathy (gene panel)
• Rare non-epithelial ovarian neoplasms (2 genes)
• Renal cysts and diabetes syndrome
• Retinoblastoma
• Rett syndrome / MECP2 Duplication Syndrome
• Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)
• Rhabdomyosarcoma
• Schwannoma Predisposition Syndrome (gene panel)
• Skeletal Dysplasia (gene panel)
• Somatic analysis of the BRCA genes (2 genes)
• Spastic paraplegia-4
• Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
• Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
• Steinert myotonic dystrophy - CTG repeat expansion
• Stickler syndrome (gene panel)
• Swachman-Bodian-Diamond syndrome
• Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (gene panel)
• Thiopurine S-Methyltransferase deficiency - TPMT genotyping of 3 polymorphisms - Pharmacogenetics
• Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG)
• Trombosis - Hemostasis (gene panel)
• Uniparental Disomy (UDP7; UDP11; UDP14; UDP20)
• Von Hippel Lindau
• WAGR Syndrome
• WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
• Wilms tumor (DICER1; WT1 genes)
• Wiskott-Aldrich syndrome
• X-chromosome inactivation
• X-linked agammaglobulinemia
• Zygosity (medical)

Related Diseases

• Alzheimer disease (NON RARE IN EUROPE)
• ALG1-CDG
• ALG11-CDG
• ALG12-CDG
• ALG13-CDG
• ALG2-CDG
• ALG3-CDG
• ALG6-CDG
• ALG8-CDG
• ALG9-CDG
• APC-related attenuated familial adenomatous polyposis
• ATTRV122I amyloidosis
• ATTRV30M amyloidosis
• Abacavir toxicity
• Acquired idiopathic sideroblastic anemia
• Acral peeling skin syndrome
• Acral self-healing collodion baby
• Acrodermatitis continua of Hallopeau
• Acrodermatitis enteropathica
• Activated PI3K-delta syndrome
• Acute myeloid leukaemia with myelodysplasia-related features
• Acute myeloid leukemia with t(8;21)(q22;q22) translocation
• Acute neonatal citrullinemia type I
• Adult-onset citrullinemia type I
• Aggressive systemic mastocytosis
• Alpha delta granule deficiency
• Alpha-1-antitrypsin deficiency
• Amish infantile epilepsy syndrome
• Amyotrophic lateral sclerosis
• Andersen-Tawil syndrome
• Angelman syndrome due to imprinting defect in 15q11-q13
• Angelman syndrome due to maternal 15q11q13 deletion
• Angelman syndrome due to paternal uniparental disomy of chromosome 15
• Annular epidermolytic ichthyosis
• Aplasia cutis congenita
• Arthrogryposis-renal dysfunction-cholestasis syndrome
• Atrial septal defect, ostium secundum type
• Atrial standstill
• Attenuated Chédiak-Higashi syndrome
• Atypical hemolytic uremic syndrome with complement gene abnormality
• Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
• Autism spectrum disorder-epilepsy-arthrogryposis syndrome
• Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
• Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
• Autoimmune interstitial lung disease-arthritis syndrome
• Autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune polyendocrinopathy type 1
• Autosomal agammaglobulinemia
• Autosomal dominant dopa-responsive dystonia
• Autosomal dominant epidermolytic ichthyosis
• Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
• Autosomal dominant generalized dystrophic epidermolysis bullosa
• Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
• Autosomal dominant generalized epidermolysis bullosa simplex, severe form
• Autosomal dominant hyper-IgE syndrome
• Autosomal dominant hypocalcemia
• Autosomal dominant macrothrombocytopenia
• Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Autosomal dominant severe congenital neutropenia
• Autosomal dominant spastic paraplegia type 4
• Autosomal dominant thrombocytopenia with platelet secretion defect
• Autosomal recessive epidermolytic ichthyosis
• Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
• Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
• Autosomal recessive non-syndromic intellectual disability
• Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
• Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• Autosomal systemic lupus erythematosus
• Autosomal thrombocytopenia with normal platelets
• Azathioprine or 6-mercatopurine toxicity or dose selection
• B4GALT1-CDG
• BENTA disease
• BRESEK syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Baraitser-Winter cerebrofrontofacial syndrome
• Barth syndrome
• Bathing suit ichthyosis
• Becker muscular dystrophy
• Becker nevus syndrome
• Beckwith-Wiedemann syndrome
• Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
• Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
• Behavioral variant of frontotemporal dementia
• Bernard-Soulier syndrome
• Beta-thalassemia-X-linked thrombocytopenia syndrome
• Biotinidase deficiency
• Birt-Hogg-Dubé syndrome
• Blackfan-Diamond anemia
• Bleeding diathesis due to glycoprotein VI deficiency
• Bleeding diathesis due to thromboxane synthesis deficiency
• Bleeding disorder due to CalDAG-GEFI deficiency
• Bleeding disorder due to P2Y12 defect
• Bleeding disorder in hemophilia A carriers
• Bleeding disorder in hemophilia B carriers
• Bloom syndrome
• Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
• Brugada syndrome
• CEDNIK syndrome
• CHILD syndrome
• CK syndrome
• CLOVES syndrome
• COG1-CDG
• COG2-CDG
• COG4-CDG
• COG5-CDG
• COG6-CGD
• COG7-CDG
• COG8-CDG
• Carbamoyl-phosphate synthetase 1 deficiency
• Cardiofaciocutaneous syndrome
• Carvajal syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Centripetalis recessive dystrophic epidermolysis bullosa
• Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
• Cerebral sinovenous thrombosis
• Charcot-Marie-Tooth disease type 1A
• Chronic granulomatous disease
• Chronic mucocutaneous candidiasis
• Chronic myeloid leukemia
• Chronic respiratory distress with surfactant metabolism deficiency
• Chédiak-Higashi syndrome
• Classic galactosemia
• Classic maple syrup urine disease
• Coeliac disease
• Combined deficiency of factor V and factor VIII
• Combined immunodeficiency due to partial RAG1 deficiency
• Combined immunodeficiency with faciooculoskeletal anomalies
• Combined immunodeficiency with granulomatosis
• Common variable immunodeficiency
• Congenital alpha2-antiplasmin deficiency
• Congenital amegakaryocytic thrombocytopenia
• Congenital autosomal recessive small-platelet thrombocytopenia
• Congenital bilateral absence of vas deferens
• Congenital disorder of glycosylation
• Congenital dyserythropoietic anemia type III
• Congenital erythropoietic porphyria
• Congenital factor II deficiency
• Congenital factor V deficiency
• Congenital factor VII deficiency
• Congenital factor X deficiency
• Congenital factor XI deficiency
• Congenital factor XII deficiency
• Congenital factor XIII deficiency
• Congenital fiber-type disproportion myopathy
• Congenital high-molecular-weight kininogen deficiency
• Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
• Congenital muscular dystrophy due to LMNA mutation
• Congenital muscular dystrophy with intellectual disability
• Congenital muscular dystrophy with intellectual disability and severe epilepsy
• Congenital muscular dystrophy without intellectual disability
• Congenital muscular dystrophy, Fukuyama type
• Congenital myasthenic syndromes with glycosylation defect
• Congenital non-bullous ichthyosiform erythroderma
• Congenital plasminogen activator inhibitor type 1 deficiency
• Congenital prekallikrein deficiency
• Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
• Congenital reticular ichthyosiform erythroderma
• Congenital thrombotic thrombocytopenic purpura
• Constitutional mismatch repair deficiency syndrome
• Costello syndrome
• Cowden syndrome
• Cutaneous mastocytoma
• Cyclic neutropenia
• Cystic fibrosis
• Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
• DDOST-CDG
• DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
• DITRA
• DK1-CDG
• DPAGT1-CDG
• DPM1-CDG
• DPM3-CDG
• Deafness-lymphedema-leukemia syndrome
• Dejerine-Sottas syndrome
• Dermatosparaxis Ehlers-Danlos syndrome
• Diffuse palmoplantar keratoderma with painful fissures
• Dihydropyrimidine dehydrogenase deficiency
• Dowling-Degos disease
• Down syndrome
• Drug- or toxin-induced pulmonary arterial hypertension
• Duchenne muscular dystrophy
• Dyskeratosis congenita
• Early-onset autosomal dominant Alzheimer disease
• Early-onset generalized limb-onset dystonia
• Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
• East Texas bleeding disorder
• Ebstein malformation of the tricuspid valve
• Endometrial Cancer
• Epidermolysis bullosa simplex due to BP230 deficiency
• Epidermolysis bullosa simplex due to exophilin 5 deficiency
• Epidermolysis bullosa simplex superficialis
• Epidermolysis bullosa simplex with circinate migratory erythema
• Epidermolysis bullosa simplex with mottled pigmentation
• Epidermolysis bullosa simplex with pyloric atresia
• Epidermolytic palmoplantar keratoderma
• Epithelial recurrent erosion dystrophy
• Epithelioid hemangioendothelioma
• Erythrocyte galactose epimerase deficiency
• Erythrokeratodermia variabilis
• Erythrokeratodermia-cardiomyopathy syndrome
• Essential thrombocythemia
• Exfoliative ichthyosis
• F12-related hereditary angioedema with normal C1Inh
• Fabry disease
• Facioscapulohumeral dystrophy
• Familial abdominal aortic aneurysm
• Familial adenomatous polyposis
• Familial afibrinogenemia
• Familial atrial fibrillation
• Familial atypical multiple mole melanoma syndrome
• Familial bicuspid aortic valve
• Familial cerebral saccular aneurysm
• Familial dysfibrinogenemia
• Familial hemophagocytic lymphohistiocytosis
• Familial hypocalciuric hypercalcemia type 1
• Familial hypodysfibrinogenemia
• Familial hypofibrinogenemia
• Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
• Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
• Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
• Familial isolated dilated cardiomyopathy
• Familial isolated hyperparathyroidism
• Familial isolated restrictive cardiomyopathy
• Familial medullary thyroid carcinoma
• Familial melanoma
• Familial multiple meningioma
• Familial multiple nevi flammei
• Familial or sporadic hemiplegic migraine
• Familial pancreatic carcinoma
• Familial paroxysmal ataxia
• Familial platelet disorder with associated myeloid malignancy
• Familial progressive cardiac conduction defect
• Familial prostate cancer
• Familial rhabdoid tumor
• Familial short QT syndrome
• Familial sick sinus syndrome
• Familial thoracic aortic aneurysm and aortic dissection
• Familial thrombocytosis
• Familial vesicoureteral reflux
• Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
• Ferro-cerebro-cutaneous syndrome
• Fetal and neonatal alloimmune thrombocytopenia
• Focal palmoplantar keratoderma with joint keratoses
• Fragile X syndrome
• Fragile X-associated tremor/ataxia syndrome
• Fraser syndrome
• Frasier syndrome
• Friedreich ataxia
• Frontotemporal dementia with motor neuron disease
• Fryns syndrome
• GTP cyclohydrolase I deficiency
• Galactokinase deficiency
• Gastric adenocarcinoma and proximal polyposis of the stomach
• Gaucher disease type 1
• Gaucher disease type 3
• Generalized galactose epimerase deficiency
• Generalized pustular psoriasis
• Ghosal hematodiaphyseal dysplasia
• Gilbert syndrome (NON RARE IN EUROPE)
• Glanzmann thrombasthenia
• Glycogen storage disease due to LAMP-2 deficiency
• Gorlin syndrome
• Gray platelet syndrome
• HNF1B-related autosomal dominant tubulointerstitial kidney disease
• Harlequin ichthyosis
• Heart-hand syndrome, Slovenian type
• Hemochromatosis type 1 (NON RARE IN EUROPE)
• Hemophilia A
• Hemophilia B
• Hereditary breast and ovarian cancer syndrome
• Hereditary breast cancer
• Hereditary chronic pancreatitis
• Hereditary clear cell renal cell carcinoma
• Hereditary combined deficiency of vitamin K-dependent clotting factors
• Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
• Hereditary fructose intolerance
• Hereditary hemorrhagic telangiectasia
• Hereditary hypotrichosis with recurrent skin vesicles
• Hereditary isolated aplastic anemia
• Hereditary late-onset Parkinson disease
• Hereditary leiomyomatosis and renal cell cancer
• Hereditary neuropathy with liability to pressure palsies
• Hereditary neutrophilia
• Hereditary nonpolyposis colorectal cancer
• Hereditary papillary renal cell carcinoma
• Hereditary pheochromocytoma-paraganglioma
• Hereditary pulmonary alveolar proteinosis
• Hereditary retinoblastoma
• Hereditary site-specific ovarian cancer syndrome
• Hereditary spastic paraplegia
• Hereditary thrombocytopenia with early-onset myelofibrosis
• Hereditary thrombophilia due to congenital antithrombin deficiency
• Heritable pulmonary arterial hypertension
• Hermansky-Pudlak syndrome due to AP-3 deficiency
• Hermansky-Pudlak syndrome due to BLOC-1 deficiency
• Hermansky-Pudlak syndrome due to BLOC-2 deficiency
• Hermansky-Pudlak syndrome due to BLOC-3 deficiency
• Hermansky-Pudlak syndrome type 8
• Hermansky-Pudlak syndrome type 9
• Hidrotic ectodermal dysplasia
• Hirschsprung disease
• Holocarboxylase synthetase deficiency
• Homozygous familial hypercholesterolemia
• Hoyeraal-Hreidarsson syndrome
• Huntington disease
• Huntington disease-like syndrome due to C9ORF72 expansions
• Hyper-IgM syndrome type 3
• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Hyperparathyroidism-jaw tumor syndrome
• Hyperphosphatasia-intellectual disability syndrome
• Hypohidrotic ectodermal dysplasia with immunodeficiency
• Hypoplasminogenemia
• Hypoplastic left heart syndrome
• Hypotrichosis simplex
• Hypotrichosis simplex of the scalp
• Ichthyosis follicularis-alopecia-photophobia syndrome
• Ichthyosis hystrix of Curth-Macklin
• Ichthyosis-hypotrichosis syndrome
• Ichthyosis-prematurity syndrome
• Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
• Idiopathic aplastic anemia
• Idiopathic bronchiectasis
• Idiopathic pulmonary fibrosis
• Idiopathic ventricular fibrillation, non Brugada type
• Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
• Infant acute respiratory distress syndrome
• Infantile spasms syndrome
• Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
• Inherited epidermolysis bullosa
• Intermediate generalized junctional epidermolysis bullosa
• Intermediate maple syrup urine disease
• Intermittent maple syrup urine disease
• Interstitial lung disease due to ABCA3 deficiency
• Interstitial lung disease due to SP-C deficiency
• Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
• Irinotecan toxicity
• Isolated focal non-epidermolytic palmoplantar keratoderma
• Jervell and Lange-Nielsen syndrome
• Junctional epidermolysis bullosa with pyloric atresia
• Juvenile myelomonocytic leukemia
• KID syndrome
• KRT1-related diffuse nonepidermolytic keratoderma
• Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
• Kennedy disease
• Keratoderma hereditarium mutilans
• Keratoderma hereditarium mutilans with ichthyosis
• Keratosis follicularis spinulosa decalvans
• Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
• Kindler epidermolysis bullosa
• Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
• Kostmann syndrome
• Lamellar ichthyosis
• Large congenital melanocytic nevus
• Late-onset distal myopathy, Markesbery-Griggs type
• Late-onset junctional epidermolysis bullosa
• Left ventricular noncompaction
• Legius syndrome
• Lethal acantholytic erosive disorder
• Lethal hydranencephaly-diaphragmatic hernia syndrome
• Leukocyte adhesion deficiency type II
• Leukocyte adhesion deficiency type III
• Li-Fraumeni syndrome
• Localized dystrophic epidermolysis bullosa, acral form
• Localized dystrophic epidermolysis bullosa, nails only
• Localized dystrophic epidermolysis bullosa, pretibial form
• Localized epidermolysis bullosa simplex
• Localized junctional epidermolysis bullosa
• Lynch syndrome
• MAN1B1-CDG
• MEDNIK syndrome
• MEND syndrome
• MGAT2-CDG
• MIRAGE syndrome
• MOGS-CDG
• MPDU1-CDG
• MPI-CDG
• MUTYH-related attenuated familial adenomatous polyposis
• MYH9-related disease
• Machado-Joseph disease type 1
• Machado-Joseph disease type 2
• Machado-Joseph disease type 3
• Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
• Maffucci syndrome
• Maligant granulosa cell tumor of the ovary
• Malignant Sertoli-Leydig cell tumor of the ovary
• McCune-Albright syndrome
• Meacham syndrome
• Medulloblastoma
• Medulloblastoma with extensive nodularity
• Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
• Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
• Meningioma
• Menkes disease
• Mild hemophilia A
• Mild hemophilia B
• Moderate hemophilia A
• Moderate hemophilia B
• Monilethrix
• Monocytopenia with susceptibility to infections
• Multiple congenital anomalies-hypotonia-seizures syndrome type 2
• Multiple endocrine neoplasia type 1
• Multiple endocrine neoplasia type 2A
• Multiple endocrine neoplasia type 2B
• Multiple endocrine neoplasia type 4
• Multiple sulfatase deficiency
• Muscle-eye-brain disease
• Muscular dystrophy, Selcen type
• Musculocontractural Ehlers-Danlos syndrome
• Mutilating palmoplantar keratoderma with periorificial keratotic plaques
• Myelodysplastic syndrome
• Narcolepsy type 1
• Narcolepsy type 2
• Naxos disease
• Neonatal acute respiratory distress due to SP-B deficiency
• Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
• Neonatal ichthyosis-sclerosing cholangitis syndrome
• Neonatal inflammatory skin and bowel disease
• Neonatal severe primary hyperparathyroidism
• Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
• Nephroblastoma
• Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
• Netherton syndrome
• Neuroblastoma
• Neurofibromatosis type 1
• Neurofibromatosis-Noonan syndrome
• Neutral lipid storage disease with ichthyosis
• Nijmegen breakage syndrome
• Nodular urticaria pigmentosa
• Non-hereditary retinoblastoma
• Non-specific early-onset epileptic encephalopathy
• Noonan syndrome
• Noonan syndrome with multiple lentigines
• Noonan syndrome-like disorder with loose anagen hair
• Oculopharyngeal muscular dystrophy
• Omenn syndrome
• PGM1-CDG
• PGM3-CDG
• PLG-related hereditary angioedema with normal C1Inh
• PMM2-CDG
• Pachyonychia congenita
• Palmoplantar keratoderma-deafness syndrome
• Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
• Paris-Trousseau thrombocytopenia
• Parkinson-dementia complex of Guam
• Parkinsonian-pyramidal syndrome
• Paroxysmal nocturnal hemoglobinuria
• Partial chromosome Y deletion
• Paternal uniparental disomy of chromosome 7
• Peeling skin syndrome type A
• Peeling skin syndrome type B
• Persistent polyclonal B-cell lymphocytosis
• Peters plus syndrome
• Peutz-Jeghers syndrome
• Pityriasis rubra pilaris
• Plaque-form urticaria pigmentosa
• Poikiloderma with neutropenia
• Polycythemia vera
• Prader-Willi syndrome due to imprinting mutation
• Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
• Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
• Primary ciliary dyskinesia
• Primary ciliary dyskinesia-retinitis pigmentosa syndrome
• Primary hypereosinophilic syndrome
• Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
• Progressive symmetric erythrokeratodermia
• Propionic acidemia
• Proteus syndrome
• Proximal spinal muscular atrophy type 1
• Proximal spinal muscular atrophy type 2
• Proximal spinal muscular atrophy type 3
• Proximal spinal muscular atrophy type 4
• Pseudo-von Willebrand disease
• Pulmonary alveolar microlithiasis
• Pulmonary venoocclusive disease
• Pustulosis palmaris et plantaris
• Pyruvate dehydrogenase E3 deficiency
• Quebec platelet disorder
• RAS-associated autoimmune leukoproliferative disease
• RFT1-CDG
• Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
• Recessive X-linked ichthyosis
• Recessive dystrophic epidermolysis bullosa inversa
• Refractory anemia
• Refractory anemia with excess blasts type 1
• Refractory anemia with excess blasts type 2
• Refsum disease
• Renal cell carcinoma
• Rendu Osler Weber
• Rett syndrome
• Revesz syndrome
• Rhizomelic chondrodysplasia punctata type 1
• Romano-Ward syndrome
• SLC35A1-CDG
• SRD5A3-CDG
• STAT3-related early-onset multisystem autoimmune disease
• STT3A-CDG
• STT3B-CDG
• Salt-and-pepper syndrome
• Schneckenbecken dysplasia
• Schwannomatosis
• Scott syndrome
• Self-improving collodion baby
• Self-improving dystrophic epidermolysis bullosa
• Semantic dementia
• Severe autosomal recessive macrothrombocytopenia
• Severe combined immunodeficiency due to CARD11 deficiency
• Severe combined immunodeficiency due to DCLRE1C deficiency
• Severe combined immunodeficiency due to complete RAG1/2 deficiency
• Severe dermatitis-multiple allergies-metabolic wasting syndrome
• Severe hemophilia A
• Severe hemophilia B
• Severe hereditary thrombophilia due to congenital protein C deficiency
• Severe hereditary thrombophilia due to congenital protein S deficiency
• Shwachman-Diamond syndrome
• Sialuria
• Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
• Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
• Sinoatrial node dysfunction and deafness
• Sitosterolemia
• Sjögren-Larsson syndrome
• Small cell carcinoma of the ovary
• Sneddon syndrome
• Spinal muscular atrophy with respiratory distress type 1
• Spinal muscular atrophy with respiratory distress type 2
• Spinocerebellar Ataxias
• Spinocerebellar ataxia type 1
• Spinocerebellar ataxia type 2
• Spinocerebellar ataxia type 6
• Spinocerebellar ataxia type 7
• Steinert myotonic dystrophy
• Stormorken-Sjaastad-Langslet syndrome
• Striate palmoplantar keratoderma
• Sturge-Weber syndrome
• Superficial epidermolytic ichthyosis
• Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
• Symptomatic form of fragile X syndrome in female carriers
• Symptomatic form of hemochromatosis type 1
• Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
• Syndromic recessive X-linked ichthyosis
• Systemic lupus erythematosus
• Sézary syndrome
• T-B+ severe combined immunodeficiency due to gamma chain deficiency
• TMEM165-CDG
• Temple syndrome due to maternal uniparental disomy of chromosome 14
• Tetralogy of Fallot
• Thiamine-responsive maple syrup urine disease
• Thrombocythemia with distal limb defects
• Thrombocytopenia with congenital dyserythropoietic anemia
• Thrombocytopenia-absent radius syndrome
• Thrombomodulin-related bleeding disorder
• Timothy syndrome
• Transient familial neonatal hyperbilirubinemia
• Trichothiodystrophy
• Triple A syndrome
• Trisomy 13
• Trisomy 18
• Typical urticaria pigmentosa
• Uveal melanoma
• Vascular Ehlers-Danlos syndrome
• Vasculitis due to ADA2 deficiency
• Vitamin B12-unresponsive methylmalonic acidemia type mut-
• Vitamin B12-unresponsive methylmalonic acidemia type mut0
• Von Hippel-Lindau disease
• Von Willebrand disease type 1
• Von Willebrand disease type 2A
• Von Willebrand disease type 2B
• Von Willebrand disease type 2M
• Von Willebrand disease type 2N
• Von Willebrand disease type 3
• WAGR syndrome
• WHIM syndrome
• Walker-Warburg syndrome
• Wiskott-Aldrich syndrome
• Woolly hair nevus
• X-linked agammaglobulinemia
• X-linked dominant chondrodysplasia punctata
• X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
• X-linked hyper-IgM syndrome
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• X-linked lymphoproliferative disease
• X-linked lymphoproliferative disease due to SH2D1A deficiency
• X-linked lymphoproliferative disease due to XIAP deficiency
• X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
• X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
• X-linked severe congenital neutropenia
• X-linked thrombocytopenia with normal platelets
• Xeroderma pigmentosum-Cockayne syndrome complex
• Young-onset Parkinson disease

Related Gene Panels

• Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	100.00	0	NM_001605.2
  ABCD1	100.00	0	NM_000033.3
  ABHD12	98.00	0	NM_001042472.2
  AGTPBP1	99.90	0	NM_001286715.1
  AIFM1	100.00	0	NM_004208.3
  APTX	99.00	0	NM_175073.2
  ARHGEF10	100.00	0	NM_014629.3
  ATL1	100.00	0	NM_015915.4
  ATL3	100.00	0	NM_015459.4
  ATP1A1	100.00	0	NM_000701.7
  ATP7A	100.00	0	NM_000052.6
  BAG3	100.00	0	NM_004281.3
  BICD2	100.00	0	NM_001003800.1
  BSCL2	100.00	0	NM_032667.6
  MTRFR	100.00	0	NM_152269.4
  CCT5	100.00	0	NM_012073.4
  CD59	100.00	0	NM_203330.2
  CNTNAP1	100.00	0	NM_003632.2
  COA7	100.00	0	NM_023077.2
  COX6A1	100.00	0	NM_004373.3
  CTDP1	98.90	0	NM_004715.4
  DCAF8	100.00	0	NM_015726.3
  DCTN1	100.00	0	NM_004082.4
  DGAT2	100.00	0	NM_032564.4
  DHTKD1	99.90	0	NM_018706.6
  DNAJB2	100.00	0	NM_001039550.1
  DNM2	100.00	0	NM_001005360.2
  DNMT1	99.50	0	NM_001130823.2
  DRP2	100.00	0	NM_001939.2
  DST	100.00	0	NM_001723.5
  DYNC1H1	100.00	0	NM_001376.4
  EGR2	100.00	0	NM_000399.4
  ELP1	100.00	0	NM_003640.4
  FBLN5	100.00	0	NM_006329.3
  FBXO38	100.00	0	NM_030793.4
  FGD4	100.00	0	NM_139241.3
  FIG4	100.00	0	NM_014845.5
  FLVCR1	100.00	0	NM_014053.3
  GAN	100.00	0	NM_022041.3
  GARS1	100.00	0	NM_002047.3
  GDAP1	100.00	0	NM_018972.3
  GJB1	100.00	0	NM_000166.5
  GJB3	100.00	0	NM_024009.2
  GLA	100.00	0	NM_000169.2
  GNB4	100.00	0	NM_021629.3
  HADHA	100.00	0	NM_000182.4
  HADHB	100.00	0	NM_000183.2
  HARS1	100.00	0	NM_002109.5
  HINT1	100.00	0	NM_005340.6
  HK1	100.00	0	NM_000188.2
  HOXD10	100.00	0	NM_002148.3
  HSPB1	99.00	0	NM_001540.4
  HSPB3	100.00	0	NM_006308.2
  HSPB8	100.00	0	NM_014365.2
  IARS2	100.00	0	NM_018060.3
  IFRD1	99.90	0	NM_001550.3
  IGHMBP2	100.00	0	NM_002180.2
  INF2	98.80	0	NM_022489.3
  ITPR3	99.50	0	NM_002224.3
  KARS1	100.00	0	NM_001130089.1
  KIF1A	99.90	0	NM_004321.7
  KIF1B	100.00	0	NM_015074.3
  KIF5A	100.00	0	NM_004984.3
  KLHL13	100.00	0	NM_033495.3
  LITAF	100.00	0	NM_004862.3
  LMNA	99.90	0	NM_170707.3
  LRSAM1	100.00	0	NM_138361.5
  MARS1	100.00	0	NM_004990.3
  MCM3AP	100.00	0	NM_003906.4
  MED25	100.00	0	NM_030973.3
  MFN2	100.00	0	NM_014874.3
  MME	100.00	0	NM_007289.3
  MORC2	100.00	0	NM_001303256.2
  MPV17	100.00	0	NM_002437.4
  MPZ	100.00	0	NM_000530.7
  MTMR2	100.00	0	NM_016156.5
  MYH7B	99.80	0	NM_024729.3
  NAGLU	99.70	0	NM_000263.3
  NDRG1	100.00	0	NM_006096.3
  NEFH	99.50	0	NM_021076.3
  NEFL	99.60	0	NM_006158.4
  NGF	100.00	0	NM_002506.2
  NTRK1	100.00	0	NM_001012331.1
  MED12	100.00	0	NM_015560.2
  OPA3	100.00	0	NM_025136.3
  PDK3	100.00	0	NM_001142386.2
  PDXK	100.00	0	NM_003681.4
  PEX1	100.00	0	NM_000466.2
  PEX7	100.00	0	NM_000288.3
  PHYH	100.00	0	NM_006214.3
  PLEKHG5	99.80	0	NM_020631.4
  PMP2	100.00	0	NM_002677.4
  PMP22	100.00	0	NM_000304.3
  PNKP	99.80	0	NM_007254.3
  POLG	100.00	0	NM_002693.2
  PRDM12	90.30	0	NM_021619.2
  PRNP	100.00	0	NM_000311.4
  PRPS1	100.00	0	NM_002764.3
  PRX	100.00	0	NM_181882.2
  RAB7A	100.00	0	NM_004637.5
  REEP1	100.00	0	NM_022912.2
  RETREG1	99.40	0	NM_001034850.2
  SBF1	99.70	0	NM_002972.3
  SBF2	100.00	0	NM_030962.3
  SCN10A	100.00	0	NM_006514.3
  SCN11A	99.80	0	NM_014139.2
  SCN9A	100.00	0	NM_002977.3
  SCO2	100.00	0	NM_005138.2
  SCP2	100.00	0	NM_002979.4
  SEPTIN9	99.20	0	NM_006640.4
  SETX	100.00	0	NM_015046.6
  SGPL1	100.00	0	NM_003901.3
  SH3BP4	100.00	0	NM_014521.2
  SH3TC2	100.00	0	NM_024577.3
  SIGMAR1	100.00	0	NM_005866.3
  SLC12A6	100.00	0	NM_133647.1
  SLC25A46	100.00	0	NM_138773.3
  SLC5A7	100.00	0	NM_021815.4
  SORD	91.20	0	NM_003104.5
  SOX10	100.00	0	NM_006941.3
  SPG11	100.00	0	NM_025137.3
  SPTLC1	100.00	0	NM_006415.3
  SPTLC2	100.00	0	NM_004863.3
  SURF1	99.00	0	NM_003172.3
  TDP1	100.00	0	NM_018319.3
  TECPR2	100.00	0	NM_014844.4
  TFG	100.00	0	NM_006070.5
  TRIM2	100.00	0	NM_001130067.1
  TRPA1	100.00	0	NM_007332.2
  TRPV4	99.90	0	NM_021625.4
  TTR	100.00	0	NM_000371.3
  TUBB3	100.00	0	NM_006086.3
  TWNK	100.00	0	NM_021830.4
  TYMP	100.00	0	NM_001953.4
  VCP	99.90	0	NM_007126.4
  VRK1	100.00	0	NM_003384.2
  WARS1	99.80	0	NM_004184.3
  WNK1	99.80	0	NM_018979.3
  YARS1	100.00	0	NM_003680.3

• Alzheimer erly-onset disease (3 genes) -KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  APP	100.00	1
  PSEN1	100.00	1
  PSEN2	100.00	1

• Amyotrophic lateral sclerosis (5 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  SOD1	100.00	1
  TARDBP	100.00	1
  FUS	100.00	1
  MAPT	100.00	1
  GRN	100.00	1

• Ataxia (141 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  BEAN1	85.90	0	NM_001178020.2
  KCNC3	88.90	0	NM_004977.2
  SYT14	92.90	0	NM_001146261.2
  PTF1A	94.90	0	NM_178161.2
  ATXN10	95.40	0	NM_013236.3
  ATXN2	96.20	0	NM_002973.3
  FXN	96.40	0	NM_000144.4
  ATXN3	97.20	0	NM_004993.5
  TTC19	98.00	0	NM_017775.3
  ATXN7	98.00	0	NM_000333.3
  ABHD12	98.00	0	NM_001042472.2
  FMR1	98.50	0	NM_002024.5
  DAB1	98.80	0	NM_021080.4
  CACNA2D2	98.90	0	NM_006030.3
  APTX	99.00	0	NM_175073.2
  TBP	99.30	0	NM_003194.4
  CLN6	99.30	0	NM_017882.2
  EIF2B2	99.50	0	NM_014239.3
  CP	99.50	0	NM_000096.3
  DNMT1	99.50	0	NM_001130823.2
  MTPAP	99.50	0	NM_018109.3
  PRRT2	99.60	0	NM_145239.2
  DARS2	99.70	0	NM_018122.4
  PNKP	99.80	0	NM_007254.3
  CLCN2	99.80	0	NM_004366.5
  PNPLA6	99.80	0	NM_006702.4
  CACNA1A	99.80	0	NM_001127221.1
  ATN1	99.80	0	NM_001007026.1
  AFG3L2	99.80	0	NM_006796.2
  AMPD2	99.80	0	NM_001257360.1
  TRPC3	99.80	0	NM_001130698.1
  GRM1	99.90	0	NM_001278064.1
  ACD	99.90	0	NM_000391.3
  CACNA1G	99.90	0	NM_018896.4
  ATP8A2	99.90	0	NM_016529.5
  NPC1	99.90	0	NM_000271.4
  PRKCG	99.90	0	NM_002739.4
  SPG7	99.90	0	NM_003119.3
  ATXN1	99.90	0	NM_000332.3
  IFRD1	99.90	0	NM_001550.3
  NKX6-2	99.90	0	NM_177400.2
  TK2	99.90	0	NM_004614.4
  TGM6	99.90	0	NM_198994.2
  COX20	99.90	0	NM_198076.5
  SLC9A1	100.00	0	NM_003047.4
  ANO10	100.00	0	NM_018075.4
  SPTBN2	100.00	0	NM_006946.3
  ITPR1	100.00	0	NM_002222.5
  RUBCN	100.00	0	NM_001145642.4
  PEX10	100.00	0	NM_153818.1
  TMEM240	100.00	0	NM_001114748.1
  WDR81	100.00	0	NM_001163809.1
  CACNB4	100.00	0	NM_000726.4
  ATM	100.00	0	NM_000051.3
  VWA3B	100.00	0	NM_144992.4
  AP1S2	100.00	0	NM_003916.4
  SYNE1	100.00	0	NM_033071.3
  SCYL1	100.00	0	NM_020680.3
  STUB1	100.00	0	NM_005861.3
  SLC1A3	100.00	0	NM_004172.4
  LAMA1	100.00	0	NM_005559.3
  NOP56	100.00	0	NM_006392.3
  CYP27A1	100.00	0	NM_000784.3
  KCNA1	100.00	0	NM_000217.2
  SETX	100.00	0	NM_015046.6
  CLN5	100.00	0	NM_006493.2
  EIF2B3	100.00	0	NM_020365.4
  PUM1	100.00	0	NM_001020658.1
  MRE11	100.00	0	NM_005591.3
  WWOX	100.00	0	NM_016373.3
  GFAP	100.00	0	NM_002055.4
  VLDLR	100.00	0	NM_003383.4
  GBA2	100.00	0	NM_020944.2
  KIF1C	100.00	0	NM_006612.5
  CWF19L1	100.00	0	NM_018294.5
  CCDC88C	100.00	0	NM_001080414.3
  SACS	100.00	0	NM_014363.5
  AAAS	100.00	0	NM_015665.5
  ABCB7	100.00	0	NM_004299.5
  ACO2	100.00	0	NM_001098.2
  ARSA	100.00	0	NM_000487.5
  ATCAY	100.00	0	NM_033064.4
  ATG5	100.00	0	NM_004849.3
  ATP1A3	100.00	0	NM_152296.5
  CA8	100.00	0	NM_004056.5
  CAPN1	100.00	0	NM_001198868.1
  COQ8A	100.00	0	NM_020247.4
  DNAJC19	100.00	0	NM_145261.3
  DNAJC3	100.00	0	NM_006260.4
  DNAJC5	100.00	0	NM_025219.2
  EEF2	100.00	0	NM_001961.3
  EIF2B1	100.00	0	NM_001414.3
  EIF2B5	100.00	0	NM_003907.2
  ELOVL4	100.00	0	NM_022726.3
  ELOVL5	100.00	0	NM_021814.4
  EXOSC3	100.00	0	NM_016042.3
  FGF14	100.00	0	NM_004115.3
  FLVCR1	100.00	0	NM_014053.3
  FOLR1	100.00	0	NM_016725.2
  GOSR2	100.00	0	NM_004287.4
  GRID2	100.00	0	NM_001510.3
  HEXA	100.00	0	NM_000520.5
  HEXB	100.00	0	NM_000521.3
  KCND3	100.00	0	NM_004980.4
  KCNJ10	100.00	0	NM_002241.4
  MARS2	100.00	0	NM_138395.3
  MME	100.00	0	NM_007289.3
  MTTP	100.00	0	NM_000253.3
  NPC2	100.00	0	NM_006432.3
  MED12	100.00	0	NM_015560.2
  PDYN	100.00	0	NM_024411.4
  PHYH	100.00	0	NM_006214.3
  PIK3R5	100.00	0	NM_001142633.2
  PMM2	100.00	0	NM_000303.2
  PMPCA	100.00	0	NM_015160.2
  POLG	100.00	0	NM_002693.2
  POLR3A	100.00	0	NM_007055.3
  PPP2R2B	100.00	0	NM_181678.2
  PRICKLE1	100.00	0	NM_153026.2
  RNF170	100.00	0	NM_001160223.1
  RNF216	100.00	0	NM_207111.3
  SAMD9L	100.00	0	NM_152703.4
  SEPSECS	100.00	0	NM_016955.3
  SIL1	100.00	0	NM_022464.4
  SLC52A2	100.00	0	NM_024531.4
  SNX14	100.00	0	NM_153816.5
  SRD5A3	100.00	0	NM_024592.4
  TDP1	100.00	0	NM_018319.3
  TDP2	100.00	0	NM_016614.2
  TTBK2	100.00	0	NM_173500.3
  TUBB4A	100.00	0	NM_006087.3
  TWNK	100.00	0	NM_021830.4
  VAMP1	100.00	0	NM_014231.4
  WFS1	100.00	0	NM_006005.3
  XRCC1	100.00	0	NM_006297.2
  ZNF592	100.00	0	NM_014630.2
  ATXN8OS	100.00	0	NG_016173.1
  TTPA	100.00	0	NM_000370.3
  ATP2B3	100.00	0	NM_001001344.2
  EIF2B4	100.00	0	NM_015636.3
  PEX7	100.00	0	NM_000288.3

• Breast/ ovarian cancer (15 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  RAD51C	100.00	1
  RAD51D	100.00	1
  BRCA1	100.00	1
  BRCA2	100.00	1
  TP53	100.00	1
  CHEK2	100.00	1
  MLH1	100.00	1
  MSH2	100.00	1
  MSH6	100.00	1
  BRIP1	100.00	1
  ATM	100.00	1
  PALB2	100.00	1
  CDH1	100.00	1
  NBN	100.00	1
  PTEN	100.00	1

• Cardiopathies, hereditary (102 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	95.00	0	NM_005691.4 / interpretable range CS1>95%
  ACTC1	95.00	0	NM_005159.5 / interpretable range CS1>95%
  ACTN2	95.00	0	NM_001103.4 / nterpretable range CS1>95%
  AKAP9	95.00	0	NM_005751.5 /interpretable range CS1>95%
  ANK2	95.00	0	NM_001148.6 / interpretable range CS1>95%
  ANKRD1	95.00	0	NM_014391.3 / interpretable range CS1>95%
  BAG3	95.00	0	NM_004281.4 / interpretable range CS1>95%
  CACNA1C	95.00	0	NM_000719.7 / interpretable range CS1>95%
  CACNA1D	95.00	0	NM_000720.4 / interpretable range CS1>95%
  CACNA2D1	95.00	0	NM_000722.4 / interpretable range CS1>95%
  CACNB2	95.00	0	NM_201590.3 / interpretable range CS1>95%
  CALM1	95.00	0	NM_006888.6 / interpretable range CS1>95%
  CALM2	95.00	0	NM_001743.6 / interpretable range CS1>95%
  CALM3	95.00	0	NM_005184.4 / interpretable range CS1>95%
  CALR3	95.00	0	NM_145046.5 / interpretable range CS1>95%
  CASQ2	95.00	0	NM_001232.4 / interpretable range CS1>95%
  CAV3	95.00	0	NM_033337.3 / interpretable range CS1>95%
  CDH2	95.00	0	NM_001792.5 / interpretable range CS1>95%
  CRYAB	95.00	0	NM_001885.3 / interpretable range CS1>95%
  CSRP3	95.00	0	NM_003476.5 / interpretable range CS1>95%
  CTNNA3	95.00	0	NM_013266.4 / interpretable range CS1>95%
  DES	95.00	0	NM_001927.4 / interpretable range CS1>95%
  DSC3	95.00	0	NM_024422.6 / interpretable range CS1>95%
  DSG2	95.00	0	NM_001943.5 / interpretable range CS1>95%
  DSP	95.00	0	NM_004415.4 / interpretable range CS1>95%
  DTNA	95.00	0	NM_001390.4 / interpretable range CS1>95%
  CFH	95.00	0	NM_001449.5 / interpretable range CS1>95%
  FHOD3	95.00	0	NM_025135.5 / interpretable range CS1>95%
  FKTN	95.00	0	NM_001079802.2 / interpretable range CS1>95%
  FLNC	95.00	0	NM_001458.5 / interpretable range CS1>95%
  GJA5	95.00	0	NM_005266.7 / interpretable range CS1>95%
  GLA	95.00	0	NM_000169.3 / interpretable range CS1>95%
  GPD1L	95.00	0	NM_015141.4 / interpretable range CS1>95%
  HCN4	95.00	0	NM_005477.3 / interpretable range CS1>95%
  JPH2	95.00	0	NM_020433.5 / interpretable range CS1>95%
  JUP	95.00	0	NM_002230.4 / interpretable range CS1>95%
  KCNA5	95.00	0	NM_002234.4 / interpretable range CS1>95%
  KCND2	95.00	0	NM_012281.3 / interpretable range CS1>95%
  KCND3	95.00	0	NM_004980.5 / interpretable range CS1>95%
  KCNE1	95.00	0	NM_000219.6 / interpretable range CS1>95%
  KCNE2	95.00	0	NM_172201.2 / interpretable range CS1>95%
  KCNE3	95.00	0	NM_005472.5 / interpretable range CS1>95%
  KCNE5	95.00	0	NM_012282.4 / interpretable range CS1>95%
  KCNH2	95.00	0	NM_000238.4 / interpretable range CS1>95%
  KCNJ2	95.00	0	NM_000891.3 / interpretable range CS1>95%
  KCNJ5	95.00	0	NM_000890.5 / interpretable range CS1>95%
  KCNJ8	95.00	0	NM_004982.4 / interpretable range CS1>95%
  KCNQ1	95.00	0	NM_000218.3 / interpretable range CS1>95%
  LAMA4	95.00	0	NM_002290.5 / interpretable range CS1>95%
  LAMP2	95.00	0	NM_002294.3 / interpretable range CS1>95%
  LDB3	95.00	0	NM_001080116.1 / interpretable range CS1>95%
  LMNA	95.00	0	NM_170707.4 / interpretable range CS1>95%
  MIB1	95.00	0	NM_020774.4 / interpretable range CS1>95%
  MYBPC3	95.00	0	NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy"
  MYH6	95.00	0	NM_002471.4 / interpretable range CS1>95%
  MYH7	95.00	0	NM_000257.4 / interpretable range CS1>95%
  MYL2	95.00	0	NM_000432.4 / interpretable range CS1>95%
  MYL3	95.00	0	NM_000258.3 / interpretable range CS1>95%
  MYLK2	95.00	0	NM_033118.4 / interpretable range CS1>95%
  MYOZ2	95.00	0	NM_016599.5 / interpretable range CS1>95%
  MYPN	95.00	0	NM_032578.4 / interpretable range CS1>95%
  NEXN	95.00	0	NM_144573.4 / interpretable range CS1>95%
  NKX2-5	95.00	0	NM_004387.4 / interpretable range CS1>95%
  NOS1AP	95.00	0	NM_014697.3 / interpretable range CS1>95%
  NPPA	95.00	0	NM_006172.4 / interpretable range CS1>95%
  NUP155	95.00	0	NM_153485.3 / interpretable range CS1>95%
  PITX2	95.00	0	NM_153427.2 / interpretable range CS1>95%
  PKP2	95.00	0	NM_004572.4 / interpretable range CS1>95%
  PLN	95.00	0	NM_002667.5 / interpretable range CS1>95%
  PRKAG2	95.00	0	NM_016203.4 / interpretable range CS1>95%
  RBM20	95.00	0	NM_001134363.3 / interpretable range CS1>95%
  RYR2	95.00	0	NM_001035.3 / interpretable range CS1>95%
  SLC4A3	95.00	0	NM_201574.2 / interpretable range CS1>95%
  SCN10A	95.00	0	NM_006514.4 / interpretable range CS1>95%
  SCN1B	95.00	0	NM_001037.5 / interpretable range CS1>95%
  SCN2B	95.00	0	NM_004588.5 / interpretable range CS1>95%
  SCN3B	95.00	0	NM_018400.4 / interpretable range CS1>95%
  SCN4B	95.00	0	NM_174934.4 / interpretable range CS1>95%
  SCN5A	95.00	0	NM_198056.3 / interpretable range CS1>95%
  SEMA3A	95.00	0	NM_006080.3 / interpretable range CS1>95%
  SGCD	95.00	0	NM_000337.6 / interpretable range CS1>95%
  SNTA1	95.00	0	NM_003098.3 / interpretable range CS1>95%
  WWTR1	95.00	0	NM_000116.5 / interpretable range CS1>95%
  TBX20	95.00	0	NM_001077653.2 / interpretable range CS1>95%
  TCAP	95.00	0	NM_003673.4 / interpretable range CS1>95%
  TECRL	95.00	0	NM_001010874.5 / interpretable range CS1>95%
  TGFB3	95.00	0	NM_003239.5 / interpretable range CS1>95%
  TJP1	95.00	0	NM_003257.5 / interpretable range CS1>95%
  TMEM43	95.00	0	NM_024334.3 / interpretable range CS1>95%
  TMPO	95.00	0	NM_003276.2 / interpretable range CS1>95%
  TNNI3	95.00	0	NM_000363.5 / interpretable range CS1>95%
  TNNI3K	95.00	0	NM_015978.3 / interpretable range CS1>95%
  TNNT2	95.00	0	NM_001001430.3 / interpretable range CS1>95%
  TPM1	95.00	0	NM_001018005.2 / interpretable range CS1>95%
  TRDN	95.00	0	NM_006073.4 / interpretable range CS1>95%
  TRIM63	95.00	0	NM_032588.4 / interpretable range CS1>95%
  TRPM4	95.00	0	NM_017636.4 / interpretable range CS1>95%
  TTN	95.00	0	NM_001267550.1 / interpretable range CS1>95%
  TTR	95.00	0	NM_000371.4 / interpretable range CS1>95%
  TXNRD2	95.00	0	NM_006440.5 / interpretable range CS1>95%
  VCL	95.00	0	NM_014000.3 / interpretable range CS1>95%

• Colorectal cancer/polyposis (18 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MLH1	100.00	1
  MSH2	100.00	1
  MSH6	100.00	1
  PMS2	100.00	1
  EPCAM	100.00	1
  POLD1	100.00	1
  POLE	100.00	1
  CHEK2	100.00	1
  TP53	100.00	1
  APC	100.00	1
  STK11	100.00	1
  BMPR1A	100.00	1
  SMAD4	100.00	1
  PTEN	100.00	1
  RNF43	100.00	1
  NTHL1	100.00	1
  MSH3	100.00	1
  MUTYH	100.00	1

• Congenital disorder of glycosylation (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  PMM2	95.00	0	interpretable range CS1>95%
  MPI	95.00	0	interpretable range CS1>95%
  ALG6	95.00	0	interpretable range CS1>95%

• Congenital disorders of glycosylation (79 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ALDOB	95.00	0	NM_000035.3/ interpretable range CS1>95%
  ALG1	95.00	0	NM_019109.4/ interpretable range CS1>95%
  ALG10	95.00	0	NM_032834.3/ interpretable range CS1>95%
  ALG11	95.00	0	NM_001004127.2/ interpretable range CS1>95%
  ALG12	95.00	0	NM_024105.3/ interpretable range CS1>95%
  ALG13	95.00	0	NM_001099922.2/ interpretable range CS1>95%
  ALG14	95.00	0	NM_144988.3/ interpretable range CS1>95%
  ALG2	95.00	0	NM_033087.3/ interpretable range CS1>95%
  ALG3	95.00	0	NM_005787.5/ interpretable range CS1>95%
  ALG5	95.00	0	NM_013338.4/ interpretable range CS1>95%
  ALG6	95.00	0	NM_013339.3/ interpretable range CS1>95%
  ALG8	95.00	0	NM_024079.4/ interpretable range CS1>95%
  ALG9	95.00	0	NM_024740.2/ interpretable range CS1>95%
  ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
  ATP9B	95.00	0	NM_198531.4/ interpretable range CS1>95%
  B3GLCT	95.00	0	NM_194318.3/ interpretable range CS1>95%
  B4GALT1	95.00	0	NM_001497.3/ interpretable range CS1>95%
  COG1	95.00	0	NM_018714.2/ interpretable range CS1>95%
  COG2	95.00	0	NM_007357.2/ interpretable range CS1>95%
  COG3	95.00	0	NM_031431.3/ interpretable range CS1>95%
  COG4	95.00	0	NM_015386.2/ interpretable range CS1>95%
  COG5	95.00	0	NM_006348.3/ interpretable range CS1>95%
  COG6	95.00	0	NM_020751.2/ interpretable range CS1>95%
  COG7	95.00	0	NM_153603.3/ interpretable range CS1>95%
  COG8	95.00	0	NM_032382.4/ interpretable range CS1>95%
  DAD1	95.00	0	NM_001344.3/ interpretable range CS1>95%
  DDOST	95.00	0	NM_005216.4/ interpretable range CS1>95%
  DHDDS	95.00	0	NM_024887.3/ interpretable range CS1>95%
  DOLK	95.00	0	NM_014908.3/ interpretable range CS1>95%
  DPAGT1	95.00	0	NM_001382.3/ interpretable range CS1>95%
  DPM1	95.00	0	NM_003859.2/ interpretable range CS1>95%
  DPM2	95.00	0	NM_003863.3/ interpretable range CS1>95%
  DPM3	95.00	0	NM_153741.1/ interpretable range CS1>95%
  FKRP	95.00	0	NM_024301.4/ interpretable range CS1>95%
  FKTN	95.00	0	NM_001079802.1/ interpretable range CS1>95%
  FUT1	95.00	0	NM_000148.3/ interpretable range CS1>95%
  GALE	95.00	0	NM_000403.3/ interpretable range CS1>95%
  GALK1	95.00	0	NM_000154.1/ interpretable range CS1>95%
  GALT	95.00	0	NM_000155.3/ interpretable range CS1>95%
  GFPT1	95.00	0	NM_002056.3/ interpretable range CS1>95%
  GMPPA	95.00	0	NM_205847.2/ interpretable range CS1>95%
  GMPPB	95.00	0	NM_013334.3/ interpretable range CS1>95%
  GNE	95.00	0	NM_001128227.2/ interpretable range CS1>95%
  LARGE1	95.00	0	NM_004737.6/ interpretable range CS1>95%
  MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
  MAN1B1	95.00	0	NM_016219.4/ interpretable range CS1>95%
  MGAT1	95.00	0	NM_001114618.1/ interpretable range CS1>95%
  MGAT2	95.00	0	NM_002408.3/ interpretable range CS1>95%
  MOGS	95.00	0	NM_006302.2/ interpretable range CS1>95%
  MPDU1	95.00	0	NM_004870.3/ interpretable range CS1>95%
  MPI	95.00	0	NM_002435.2/ interpretable range CS1>95%
  OST4	95.00	0	NM_001134693.1/ interpretable range CS1>95%
  PGM1	95.00	0	NM_002633.2/ interpretable range CS1>95%
  PGM2	95.00	0	NM_018290.3/ interpretable range CS1>95%
  PGM3	95.00	0	NM_001199917.1/ interpretable range CS1>95%
  PIGA	95.00	0	NM_002641.3/ interpretable range CS1>95%
  PIGL	95.00	0	NM_004278.3/ interpretable range CS1>95%
  PIGM	95.00	0	NM_145167.2/ interpretable range CS1>95%
  PIGN	95.00	0	NM_176787.4/ interpretable range CS1>95%
  PIGV	95.00	0	NM_017837.3/ interpretable range CS1>95%
  PMM2	95.00	0	NM_000303.2/ interpretable range CS1>95%
  POMGNT1	95.00	0	NM_017739.3/ interpretable range CS1>95%
  POMT1	95.00	0	NM_007171.3/ interpretable range CS1>95%
  POMT2	95.00	0	NM_013382.5/ interpretable range CS1>95%
  RFT1	95.00	0	NM_052859.3/ interpretable range CS1>95%
  RPN1	95.00	0	NM_002950.3/ interpretable range CS1>95%
  RPN2	95.00	0	NM_002951.4/ interpretable range CS1>95%
  SEC23B	95.00	0	NM_032985.5/ interpretable range CS1>95%
  SLC35A1	95.00	0	NM_006416.4/ interpretable range CS1>95%
  SLC35A3	95.00	0	NM_012243.2/ interpretable range CS1>95%
  SLC35C1	95.00	0	NM_018389.4/ interpretable range CS1>95%
  SLC35D1	95.00	0	NM_015139.2/ interpretable range CS1>95%
  SRD5A3	95.00	0	NM_024592.4/ interpretable range CS1>95%
  ST3GAL3	95.00	0	NM_174963.4/ interpretable range CS1>95%
  ST3GAL5	95.00	0	NM_003896.3/ interpretable range CS1>95%
  STT3A	95.00	0	NM_152713.4/ interpretable range CS1>95%
  STT3B	95.00	0	NM_178862.2/ interpretable range CS1>95%
  TMEM165	95.00	0	NM_018475.4/ interpretable range CS1>95%
  TUSC3	95.00	0	NM_006765.3/ interpretable range CS1>95%

• Constitutional Mismatch Repair Deficiency Syndrome (4 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MLH1	100.00	1
  MSH6	100.00	1
  PMS2	100.00	1
  MSH2	100.00	1

• Constitutional Mismatch Repair Deficiency Syndrome / Bloom syndrome - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MLH1	100.00	1
  MSH6	100.00	1
  PMS2	100.00	1
  BLM	100.00	1
  MSH2	100.00	1

• Cowden (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  PTEN	100.00	1
  SDHB	100.00	1
  SDHD	100.00	1

• Developmental disorders: intellectual disability and multiple congenital anomalies (gene panel) - KUL
• Dyskeratosis Congenita (17 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACD	95.00	0	NM_001082486.1/ interpretable range CS1>95%
  CTC1	95.00	0	NM_025099.5/ interpretable range CS1>95%
  DKC1	95.00	0	NM_001363.4/ interpretable range CS1>95%
  GRHL2	95.00	0	NM_024915.3/ interpretable range CS1>95%
  LIG4	95.00	0	NM_002312.3/ interpretable range CS1>95%
  TNIP1	95.00	0	NM_138386.2/ interpretable range CS1>95%
  NHP2	95.00	0	NM_017838.3/ interpretable range CS1>95%
  NOP10	95.00	0	NM_018648.3/ interpretable range CS1>95%
  PARN	95.00	0	NM_002582.3/ interpretable range CS1>95%
  POT1	95.00	0	NM_015450.2/ interpretable range CS1>95%
  RTEL1	95.00	0	NM_032957.4/ interpretable range CS1>95%
  STN1	95.00	0	NM_024928.4/ interpretable range CS1>95%
  TERC	95.00	0	NR_001566.1/ interpretable range CS1>95%
  TERT	95.00	0	NM_198253.2/ interpretable range CS1>90%
  TINF2	95.00	0	NM_001099274.1/ interpretable range CS1>95%
  USB1	95.00	0	NM_024598.3/ interpretable range CS1>95%
  WRAP53	95.00	0	NM_018081.2/ interpretable range CS1>95%

• Dystonia (68 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  PRKRA	93.20	0	NM_003690.4
  ARX	96.10	0	NM_139058.2
  CACNA1B	97.90	0	NM_000718.3
  KMT2B	98.40	0	NM_014727.2
  ADCY5	98.60	0	NM_183357.2
  CIZ1	98.80	0	NM_012127.2
  TH	99.10	0	NM_199292.2
  SMPD1	99.30	0	NM_000543.4
  CP	99.50	0	NM_000096.3
  PRRT2	99.60	0	NM_145239.2
  SUCLG1	99.60	0	NM_003849.3
  PLA2G6	99.70	0	NM_003560.3
  TBCD	99.70	0	NM_005993.4
  ANO3	99.70	0	NM_031418.3
  TOR1A	99.70	0	NM_000113.2
  GCDH	99.90	0	NM_000159.3
  NPC1	99.90	0	NM_000271.4
  FA2H	99.90	0	NM_024306.4
  TAF1	99.90	0	NM_004606.4
  SPR	99.90	0	NM_003124.4
  PTS	100.00	0	NM_000317.2
  DCAF17	100.00	0	NM_025000.3
  ATP7B	100.00	0	NM_000053.3
  SLC39A14	100.00	0	NM_015359.5
  C19ORF12	100.00	0	NM_001031726.3
  RELN	100.00	0	NM_005045.3
  ATM	100.00	0	NM_000051.3
  CACNA1A	100.00	0	NM_002143.2
  CYP27A1	100.00	0	NM_000784.3
  KCTD17	100.00	0	NM_001282684.1
  NKX2-1	100.00	0	NM_001079668.2
  PANK2	100.00	0	NM_153638.3
  VPS13A	100.00	0	NM_033305.2
  COL6A3	100.00	0	NM_004369.3
  ACTB	100.00	0	NM_001101.4
  ARSA	100.00	0	NM_000487.5
  ATP1A3	100.00	0	NM_152296.5
  AUH	100.00	0	NM_001698.2
  BCAP31	100.00	0	NM_001139441.1
  COASY	100.00	0	NM_025233.6
  DDC	100.00	0	NM_000790.3
  DRD2	100.00	0	NM_000795.3
  FTL	100.00	0	NM_000146.3
  GCH1	100.00	0	NM_000161.2
  GLB1	100.00	0	NM_000404.3
  GNAL	100.00	0	NM_001142339.2
  GNAO1	100.00	0	NM_020988.2
  GNB1	100.00	0	NM_002074.4
  HEXA	100.00	0	NM_000520.5
  HEXB	100.00	0	NM_000521.3
  HPRT1	100.00	0	NM_000194.2
  KCNMA1	100.00	0	NM_002247.3
  MECR	100.00	0	NM_016011.4
  MR1	100.00	0	NM_001194999.1
  NPC2	100.00	0	NM_006432.3
  PNKD	100.00	0	NM_015488.4
  SERAC1	100.00	0	NM_032861.3
  SGCE	100.00	0	NM_003919.2
  SLC18A2	100.00	0	NM_003054.4
  SLC19A3	100.00	0	NM_025243.3
  SLC2A1	100.00	0	NM_006516.2
  SLC30A10	100.00	0	NM_018713.2
  SLC6A3	100.00	0	NM_001044.4
  THAP1	100.00	0	NM_018105.2
  TIMM8A	100.00	0	NM_004085.3
  TUBB4A	100.00	0	NM_006087.3
  VAC14	100.00	0	NM_018052.4
  WDR45	100.00	0	NM_007075.3

• Endometrial Cancer (7 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MLH1	100.00	1
  MSH6	100.00	1
  PMS2	100.00	1
  PTEN	100.00	1
  POLD1	100.00	1
  POLE	100.00	1
  MSH2	100.00	1

• Epidermolysis bullosa and bladder diseases (60 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ADAMTS2	95.00	0	NM_014244.4/ interpretable range CS1>95%
  ATP2A2	95.00	0	NM_001681.3/ interpretable range CS1>95%
  ATP2C1	95.00	0	NM_014382.3/ interpretable range CS1>95%
  CAST	95.00	0	NM_001042440.4/ interpretable range CS1>95%
  CD151	95.00	0	NM_004357.4/ interpretable range CS1>95%
  CDSN	95.00	0	NM_001264.4/ interpretable range CS1>95%
  CHST14	95.00	0	NM_130468.3/ interpretable range CS1>95%
  CHST8	95.00	0	NM_001127896.1/ interpretable range CS1>95%
  COL17A1	95.00	0	NM_000494.3/ interpretable range CS1>95%
  COL5A1	95.00	0	NM_000093.3/ interpretable range CS1>95%
  COL5A2	95.00	0	NM_000393.3/ interpretable range CS1>95%
  COL7A1	95.00	0	NM_000094.3/ interpretable range CS1>95%
  CSTA	95.00	0	NM_005213.3/ interpretable range CS1>95%
  CSTB	95.00	0	NM_000100.3/ interpretable range CS1>95%
  DSC3	95.00	0	NM_024423.2/ interpretable range CS1>95%
  DSG1	95.00	0	NM_001942.2/ interpretable range CS1>95%
  DSG2	95.00	0	NM_001943.3/ interpretable range CS1>95%
  DSG3	95.00	0	NM_001944.2/ interpretable range CS1>95%
  DSG4	95.00	0	NM_177986.3/ interpretable range CS1>95%
  DSP	95.00	0	NM_004415.2/ interpretable range CS1>95%
  DST	95.00	0	NM_001723.5/ interpretable range CS1>95%
  EXPH5	95.00	0	NM_015065.2/ interpretable range CS1>95%
  FERMT1	95.00	0	NM_017671.4/ interpretable range CS1>95%
  FLG2	95.00	0	NM_001014342.2/ interpretable range CS1>95%
  GJB2	95.00	0	NM_004004.5/ interpretable range CS1>95%
  GRIP1	95.00	0	NM_021150.3/ interpretable range CS1>95%
  IKBKG	95.00	0	NM_001099857.1/ interpretable range CS1>95%
  ITGA3	95.00	0	NM_002204.2/ interpretable range CS1>95%
  ITGA6	95.00	0	NM_000210.2/ interpretable range CS1>95%
  ITGB4	95.00	0	NM_001005731.1/ interpretable range CS1>95%
  JUP	95.00	0	NM_002230.2/ interpretable range CS1>95%
  KLHL24	95.00	0	NM_017644.3/ interpretable range CS1>95%
  KRT1	95.00	0	NM_006121.3/ interpretable range CS1>95%
  KRT10	95.00	0	NM_000421.3/ interpretable range CS1>95%
  KRT14	95.00	0	NM_000526.4/ interpretable range CS1>95%
  KRT16	95.00	0	NM_005557.3/ interpretable range CS1>95%
  KRT17	95.00	0	NM_000422.2/ interpretable range CS1>95%
  KRT2	95.00	0	NM_000423.2/ interpretable range CS1>95%
  KRT5	95.00	0	NM_000424.3/ interpretable range CS1>95%
  KRT6A	95.00	0	NM_005554.3/ interpretable range CS1>95%
  KRT6B	95.00	0	NM_005555.3/ interpretable range CS1>95%
  KRT6C	95.00	0	NM_173086.4/ interpretable range CS1>95%
  KRT9	95.00	0	NM_000226.3/ interpretable range CS1>95%
  LAMA4	95.00	0	NM_000227.3/ interpretable range CS1>95%
  LAMB3	95.00	0	NM_000228.2/ interpretable range CS1>95%
  LAMC2	95.00	0	NM_005562.2/ interpretable range CS1>95%
  MMP1	95.00	0	NM_002421.3/ interpretable range CS1>95%
  NID1	95.00	0	NM_002508.2/ interpretable range CS1>95%
  PKP1	95.00	0	NM_001005337.2/ interpretable range CS1>95%
  PLEC	95.00	0	NM_000445.3/ interpretable range CS1>95%
  PLOD3	95.00	0	NM_001084.5/ interpretable range CS1>95%
  SERPINB8	95.00	0	NM_198833.1/ interpretable range CS1>95%
  SLC39A4	95.00	0	NM_130849.2/ interpretable range CS1>95%
  SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
  TGM5	95.00	0	NM_201631.3/ interpretable range CS1>95%
  TP63	95.00	0	NM_003722.4/ interpretable range CS1>95%
  UROD	95.00	0	NM_000374.4/ interpretable range CS1>95%
  UROS	95.00	0	NM_000375.2/ interpretable range CS1>95%
  WNT10A	95.00	0	NM_025216.2/ interpretable range CS1>95%

• Familial Hypercholesterolemia panel (4 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  LDLR	100.00	1
  APOB	100.00	1
  APOE	100.00	1
  PCSK9	100.00	1

• Familial hemiplegic Migraine (8 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CACNA1A	100.00	1	NM001127221.1/ Core gene
  ATP1A2	100.00	1	NM000702.3/ Core gene
  SCN1A	100.00	1	NM_001165963.2/ Core gene
  ATP1A3	100.00	1	NM152296.5/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
  KCNK18	100.00	1	NM181840.1/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
  PRRT2	100.00	1	NM145239.2/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
  SLC1A3	100.00	1	NM004172.4/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
  SLC2A1	100.00	1	NM_006516.2/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)

• Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  GRN	100.00	1
  MAPT	100.00	1
  FUS	100.00	1
  TARDBP	100.00	1

• Gastric cancer (10 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  APC	100.00	1
  CDH1	100.00	1
  TP53	100.00	1
  BRCA1	100.00	1
  BRCA2	100.00	1
  EPCAM	100.00	1
  MLH1	100.00	1
  MSH2	100.00	1
  MSH6	100.00	1
  PMS2	100.00	1

• Gorlin syndrome (2 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  PTCH1	100.00	1
  SUFU	100.00	1

• Hereditary Spastic Paraplegia (94 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCD1	95.00	0	interpretable range CS1>95%
  ADAR	95.00	0	interpretable range CS1>95%
  AFG3L2	95.00	0	interpretable range CS1>95%
  AIMP1	95.00	0	interpretable range CS1>95%
  ALDH18A1	95.00	0	interpretable range CS1>95%
  ALDH3A2	95.00	0	interpretable range CS1>95%
  ALS2	95.00	0	interpretable range CS1>95%
  AMPD2	95.00	0	interpretable range CS1>95%
  AP4B1	95.00	0	interpretable range CS1>95%
  AP4E1	95.00	0	interpretable range CS1>95%
  AP4M1	95.00	0	interpretable range CS1>95%
  AP4S1	95.00	0	interpretable range CS1>95%
  AP5Z1	95.00	0	interpretable range CS1>95%
  ARL6IP1	95.00	0	interpretable range CS1>95%
  ARSI	95.00	0	interpretable range CS1>95%
  ATL1	95.00	0	interpretable range CS1>95%
  ATP13A2	95.00	0	interpretable range CS1>95%
  B4GALNT1	95.00	0	interpretable range CS1>95%
  BICD2	95.00	0	interpretable range CS1>95%
  BSCL2	95.00	0	interpretable range CS1>95%
  MTRFR	95.00	0	interpretable range CS1>95%
  C19ORF12	95.00	0	interpretable range CS1>95%
  CAPN1	95.00	0	interpretable range CS1>95%
  CCT5	95.00	0	interpretable range CS1>95%
  CPT1C	95.00	0	interpretable range CS1>95%
  CYP27A1	95.00	0	interpretable range CS1>95%
  CYP2U1	95.00	0	interpretable range CS1>95%
  CYP7B1	95.00	0	interpretable range CS1>95%
  DARS1	95.00	0	interpretable range CS1>95%
  DDHD1	95.00	0	interpretable range CS1>95%
  DDHD2	95.00	0	interpretable range CS1>95%
  DSTYK	95.00	0	interpretable range CS1>95%
  ENTPD1	95.00	0	interpretable range CS1>95%
  ERLIN1	95.00	0	interpretable range CS1>95%
  ERLIN2	95.00	0	interpretable range CS1>95%
  FA2H	95.00	0	interpretable range CS1>95%
  FARS2	95.00	0	interpretable range CS1>95%
  FLRT1	95.00	0	interpretable range CS1>95%
  GBA2	95.00	0	interpretable range CS1>95%
  GCH1	95.00	0	interpretable range CS1>95%
  GJC2	95.00	0	interpretable range CS1>95%
  HACE1	95.00	0	interpretable range CS1>95%
  HSPD1	95.00	0	interpretable range CS1>95%
  IBA57	95.00	0	interpretable range CS1>95%
  KCNA2	95.00	0	interpretable range CS1>95%
  KDM5C	95.00	0	interpretable range CS1>95%
  KIDINS220	95.00	0	interpretable range CS1>95%
  KIF1A	95.00	0	interpretable range CS1>95%
  KIF1C	95.00	0	interpretable range CS1>95%
  KIF5A	95.00	0	interpretable range CS1>95%
  KLC2	95.00	0	interpretable range CS1>95%
  L1CAM	95.00	0	interpretable range CS1>95%
  ERCC2	95.00	0	interpretable range CS1>95%
  MARS1	95.00	0	interpretable range CS1>95%
  MARS2	95.00	0	interpretable range CS1>95%
  MTPAP	95.00	0	interpretable range CS1>95%
  NIPA1	95.00	0	interpretable range CS1>95%
  NKX6-2	95.00	0	interpretable range CS1>95%
  NT5C2	95.00	0	interpretable range CS1>95%
  OPA3	95.00	0	interpretable range CS1>95%
  PCYT2	95.00	0	interpretable range CS1>95%
  PGAP1	95.00	0	interpretable range CS1>95%
  PLP1	95.00	0	interpretable range CS1>95%
  PNPLA6	95.00	0	interpretable range CS1>95%
  POLR3A	95.00	0	interpretable range CS1>95%
  RAB3GAP2	95.00	0	interpretable range CS1>95%
  REEP1	95.00	0	interpretable range CS1>95%
  REEP2	95.00	0	interpretable range CS1>95%
  RNASEH2B	95.00	0	interpretable range CS1>95%
  RTN2	95.00	0	interpretable range CS1>95%
  SACS	95.00	0	interpretable range CS1>95%
  SERAC1	95.00	0	interpretable range CS1>95%
  SLC16A2	95.00	0	interpretable range CS1>95%
  SLC1A4	95.00	0	interpretable range CS1>95%
  SLC2A1	95.00	0	interpretable range CS1>95%
  SLC33A1	95.00	0	interpretable range CS1>95%
  SPART	95.00	0	interpretable range CS1>95%
  SPAST	95.00	0	interpretable range CS1>95%
  SPG11	95.00	0	interpretable range CS1>95%
  SPG21	95.00	0	interpretable range CS1>95%
  SPG7	95.00	0	interpretable range CS1>95%
  TECPR2	95.00	0	interpretable range CS1>95%
  TFG	95.00	0	interpretable range CS1>95%
  TUBB4A	95.00	0	interpretable range CS1>95%
  UBAP1	95.00	0	interpretable range CS1>95%
  UCHL1	95.00	0	interpretable range CS1>95%
  USP8	95.00	0	interpretable range CS1>95%
  VAMP1	95.00	0	interpretable range CS1>95%
  VPS37A	95.00	0	interpretable range CS1>95%
  WASHC5	95.00	0	interpretable range CS1>95%
  WDR48	95.00	0	interpretable range CS1>95%
  ZFR	95.00	0	interpretable range CS1>95%
  ZFYVE26	95.00	0	interpretable range CS1>95%
  ZFYVE27	95.00	0	interpretable range CS1>95%
  BRAF	95.00	0	interpretable range CS1>95%
  CBL	95.00	0	interpretable range CS1>95%
  HRAS	95.00	0	interpretable range CS1>95%
  KRAS	95.00	0	interpretable range CS1>95%
  MAP2K1	95.00	0	interpretable range CS1>95%
  MAP2K2	95.00	0	interpretable range CS1>95%
  NRAS	95.00	0	interpretable range CS1>95%
  PTPN11	95.00	0	interpretable range CS1>95%
  RAF1	95.00	0	interpretable range CS1>95%
  SHOC2	95.00	0	interpretable range CS1>95%
  SOS1	95.00	0	interpretable range CS1>95%
  RIT1	95.00	0	interpretable range CS1>95%

• Hyperparathyroidism (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CDC73	100.00	1
  RET	100.00	1
  MEN1	100.00	1

• Ichthyosis and erythroderma (95 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCA12	95.00	0	NM_173076.2/ interpretable range CS1>95%
  ABHD5	95.00	0	NM_016006.4/ interpretable range CS1>95%
  ADAM17	95.00	0	NM_003183.4/ interpretable range CS1>95%
  ALDH3A2	95.00	0	NM_000382.2/ interpretable range CS1>95%
  ALOX12B	95.00	0	NM_001139.2/ interpretable range CS1>95%
  ALOXE3	95.00	0	NM_021628.2/ interpretable range CS1>95%
  AP1B1	95.00	0	NM_001127.3/ interpretable range CS1>95%
  AP1S1	95.00	0	NM_001283.3/ interpretable range CS1>95%
  ASPRV1	95.00	0	NM_152792.2/ interpretable range CS1>95%
  ASS1	95.00	0	NM_000050.4/ interpretable range CS1>95%
  ATP7A	95.00	0	NM_000052.6/ interpretable range CS1>95%
  BCKDHA	95.00	0	NM_000709.3/ interpretable range CS1>95%
  BCKDHB	95.00	0	NM_183050.2/ interpretable range CS1>95%
  BTD	95.00	0	NM_000060.3/ interpretable range CS1>95%
  BTK	95.00	0	NM_000061.2/ interpretable range CS1>95%
  CAPN12	95.00	0	NM_144691.3/ interpretable range CS1>95%
  CARD14	95.00	0	NM_024110.4/ interpretable range CS1>95%
  CASP14	95.00	0	NM_012114.2/ interpretable range CS1>95%
  CAST	95.00	0	NM_001042440.4/ interpretable range CS1>95%
  CDSN	95.00	0	NM_001264.4/ interpretable range CS1>95%
  CERS3	95.00	0	NM_178842.3/ interpretable range CS1>95%
  CHST8	95.00	0	NM_001127896.1/ interpretable range CS1>95%
  CLDN1	95.00	0	NM_021101.4/ interpretable range CS1>95%
  CYP21A2	95.00	0	NM_001875.4/ interpretable range CS1>95%
  CSTA	95.00	0	NM_005213.3/ interpretable range CS1>95%
  CTSB	95.00	0	NM_001908.4/ interpretable range CS1>95%
  CYP4F22	95.00	0	NM_173483.3/ interpretable range CS1>95%
  DBT	95.00	0	NM_001918.3/ interpretable range CS1>95%
  DCLRE1C	95.00	0	NM_001033855.2/ interpretable range CS1>95%
  DLD	95.00	0	NM_000108.4/ interpretable range CS1>95%
  DSG1	95.00	0	NM_001942.2/ interpretable range CS1>95%
  GLB1	95.00	0	NM_006579.2/ interpretable range CS1>95%
  ELOVL1	95.00	0	NM_001256399.1/ interpretable range CS1>95%
  ELOVL4	95.00	0	NM_022726.3/ interpretable range CS1>95%
  ERCC2	95.00	0	NM_000400.3/ interpretable range CS1>95%
  ERCC3	95.00	0	NM_000122.1/ interpretable range CS1>95%
  FGFR1	95.00	0	NM_002016.1/ interpretable range CS1>95%
  FLG2	95.00	0	NM_001014342.2/ interpretable range CS1>95%
  GBA	95.00	0	NM_001005741.2/ interpretable range CS1>95%
  GJA1	95.00	0	NM_000165.4/ interpretable range CS1>95%
  GJB2	95.00	0	NM_004004.5/ interpretable range CS1>95%
  GJB3	95.00	0	NM_024009.2/ interpretable range CS1>95%
  GJB4	95.00	0	NM_153212.2/ interpretable range CS1>95%
  GJB6	95.00	0	NM_006783.4/ interpretable range CS1>95%
  GTF2E2	95.00	0	NM_002095.4/ interpretable range CS1>95%
  GTF2H5	95.00	0	NM_207118.2/ interpretable range CS1>95%
  HLCS	95.00	0	NM_000411.6/ interpretable range CS1>95%
  IL36RN	95.00	0	NM_012275.2/ interpretable range CS1>95%
  KDSR	95.00	0	NM_002035.2/ interpretable range CS1>95%
  KIT	95.00	0	NM_000222.2/ interpretable range CS1>95%
  KRT1	95.00	0	NM_006121.3/ interpretable range CS1>95%
  KRT10	95.00	0	NM_000421.3/ interpretable range CS1>95%
  KRT14	95.00	0	NM_000526.4/ interpretable range CS1>95%
  KRT16	95.00	0	NM_005557.3/ interpretable range CS1>95%
  KRT2	95.00	0	NM_000423.2/ interpretable range CS1>95%
  KRT5	95.00	0	NM_000424.3/ interpretable range CS1>95%
  KRT6C	95.00	0	NM_173086.4/ interpretable range CS1>95%
  KRT83	95.00	0	NM_002282.3/ interpretable range CS1>95%
  KRT9	95.00	0	NM_000226.3/ interpretable range CS1>95%
  LIPN	95.00	0	NM_001102469.1/ interpretable range CS1>95%
  LORICRIN	95.00	0	NM_000427.2/ interpretable range CS1>95%
  MBTPS2	95.00	0	NM_015884.3/ interpretable range CS1>95%
  MPLKIP	95.00	0	NM_138701.3/ interpretable range CS1>95%
  MMUT	95.00	0	NM_000255.3/ interpretable range CS1>95%
  NIPAL4	95.00	0	NM_001099287.1/ interpretable range CS1>95%
  NSDHL	95.00	0	NM_015922.2/ interpretable range CS1>95%
  PCCA	95.00	0	NM_000282.3/ interpretable range CS1>95%
  PCCB	95.00	0	NM_000532.4/ interpretable range CS1>95%
  PEX7	95.00	0	NM_000288.3/ interpretable range CS1>95%
  PHYH	95.00	0	NM_006214.3/ interpretable range CS1>95%
  PIGL	95.00	0	NM_004278.4/ interpretable range CS1>95%
  PNPLA1	95.00	0	NM_001145717.1/ interpretable range CS1>95%
  NT5C3A	95.00	0	NM_015932.5/ interpretable range CS1>95%
  RAG1	95.00	0	NM_000448.2/ interpretable range CS1>95%
  RAG2	95.00	0	NM_000536.3/ interpretable range CS1>95%
  RNF113A	95.00	0	NM_006978.2/ interpretable range CS1>95%
  SDR9C7	95.00	0	NM_148897.2/ interpretable range CS1>95%
  SERPINB8	95.00	0	NM_198833.1/ interpretable range CS1>95%
  SGPL1	95.00	0	NM_003901.3/ interpretable range CS1>95%
  SLC25A13	95.00	0	NM_014251.2/ interpretable range CS1>95%
  SLC27A4	95.00	0	NM_005094.3/ interpretable range CS1>95%
  SLC30A2	95.00	0	NM_001004434.1/ interpretable range CS1>95%
  SLC39A4	95.00	0	NM_130849.3/ interpretable range CS1>95%
  SNAP29	95.00	0	NM_004782.3/ interpretable range CS1>95%
  SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
  SREBF1	95.00	0	NM_004176.4/ interpretable range CS1>95%
  ST14	95.00	0	NM_021978.3/ interpretable range CS1>95%
  STS	95.00	0	NM_000351.4/ interpretable range CS1>95%
  SULT2B1	95.00	0	NM_177973.1/ interpretable range CS1>95%
  SUMF1	95.00	0	NM_182760.3/ interpretable range CS1>95%
  TBX1	95.00	0	NM_080647.1/ interpretable range CS1>95%
  TGM1	95.00	0	NM_000359.2/ interpretable range CS1>95%
  TGM5	95.00	0	NM_201631.3/ interpretable range CS1>95%
  VIPAS39	95.00	0	NM_022067.3/ interpretable range CS1>95%
  VPS33B	95.00	0	NM_018668.4/ interpretable range CS1>95%

• Kidney cancer (Renal Cell Carcinoma (RCC)) (10 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  BAP1	100.00	1
  FH	100.00	1
  FLCN	100.00	1
  MET	100.00	1
  SDHB	100.00	1
  SDHD	100.00	1
  SDHC	100.00	1
  SDHA	100.00	1
  SDHAF2	100.00	1
  VHL	100.00	1

• Kidney cancer (Transitional Cell Carcinoma (TCC)) (14 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  BAP1	100.00	1
  FH	100.00	1
  FLCN	100.00	1
  MET	100.00	1
  SDHB	100.00	1
  SDHD	100.00	1
  SDHC	100.00	1
  SDHA	100.00	1
  SDHAF2	100.00	1
  VHL	100.00	1
  MLH1	100.00	1
  MSH2	100.00	1
  MSH6	100.00	1
  PMS2	100.00	1

• Medulloblastoma (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  SUFU	100.00	1
  TP53	100.00	1
  PTCH1	100.00	1

• Melanoma and Familial Atypical Multiple Mole Melanoma Syndrome (8 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CDKN2A	100.00	1
  CDK4	100.00	1
  BAP1	100.00	1
  POT1	100.00	1
  ACD	100.00	1
  TERF2IP	100.00	1
  TERT	0.00	0	only promoter
  MITF	100.00	1

• Meningioma (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  NF2	100.00	1
  SMARCB1	100.00	1
  SUFU	100.00	1

• Nephropathies, hereditary (218 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACE	95.00	0	NM_000789.3/ interpretable range CS1>95%
  ACTA2	95.00	0	NM_001613.3/ interpretable range CS1>95%
  ACTG2	95.00	0	NM_001615.3/ interpretable range CS1>95%
  ACTN4	95.00	0	NM_004924.5/ interpretable range CS1>95%
  AGXT	95.00	0	NM_000030.2/ interpretable range CS1>95%
  AGTR1	95.00	0	NM_031850.3/ interpretable range CS1>95%
  ALG8	95.00	0	NM_024079.4/ interpretable range CS1>95%
  ALG9	95.00	0	NM_024740.2/ interpretable range CS1>95%
  ABCD1	95.00	0	NM_030943.3/ interpretable range CS1>95%
  ANKS6	95.00	0	NM_173551.4/ interpretable range CS1>95%
  ANLN	95.00	0	NM_018685.4/ interpretable range CS1>95%
  ANOS1	95.00	0	NM_000216.3/ interpretable range CS1>95%
  AP2S1	95.00	0	NM_004069.4/ interpretable range CS1>95%
  APOA1	95.00	0	NM_000039.2/ interpretable range CS1>95%
  APOA2	95.00	0	NM_001643.1/ interpretable range CS1>95%
  APOC2	95.00	0	NM_000483.4/ interpretable range CS1>95%
  APOE	95.00	0	NM_000041.3/ interpretable range CS1>95%
  APRT	95.00	0	NM_000485.2/ interpretable range CS1>95%
  AQP2	95.00	0	NM_000486.5/ interpretable range CS1>95%
  ARHGDIA	95.00	0	NM_001185077.2/ interpretable range CS1>95%
  ATP6V0A4	95.00	0	NM_020632.2/ interpretable range CS1>95%
  ATP6V1B1	95.00	0	NM_001692.3/ interpretable range CS1>95%
  NLRP3	95.00	0	NM_000490.4/ interpretable range CS1>95%
  AVPR2	95.00	0	NM_000054.4/ interpretable range CS1>95%
  BMP4	95.00	0	NM_001202.5/ interpretable range CS1>95%
  BNC2	95.00	0	NM_017637.5/ interpretable range CS1>95%
  BSND	95.00	0	NM_057176.2/ interpretable range CS1>95%
  C3	95.00	0	NM_000064.3/ interpretable range CS1>95%
  CA2	95.00	0	NM_000067.2/ interpretable range CS1>95%
  CACNA1H	95.00	0	NM_021098.2/ interpretable range CS1>95%
  CASR	95.00	0	NM_000388.3/ interpretable range CS1>95%
  CD2AP	95.00	0	NM_012120.2/ interpretable range CS1>95%
  CD46	95.00	0	NM_002389.4/ interpretable range CS1>95%
  CDC73	95.00	0	NM_024529.4/ interpretable range CS1>95%
  CDK20	95.00	0	NM_001039803.2/ interpretable range CS1>95%
  CEP83	95.00	0	NM_016122.2/ interpretable range CS1>95%
  CFB	95.00	0	NM_001710.5/ interpretable range CS1>95%
  CFH	95.00	0	NM_000186.3/ interpretable range CS1>95%
  CFHR1	95.00	0	NM_002113.2/ interpretable range CS1>95%
  CFHR3	95.00	0	NM_021023.5/ interpretable range CS1>95%
  CFHR5	95.00	0	NM_030787.3/ interpretable range CS1>95%
  CFI	95.00	0	NM_000204.4/ interpretable range CS1>95%
  CHRM3	95.00	0	NM_000740.3/ interpretable range CS1>95%
  CHRNA3	95.00	0	NM_000743.4/ interpretable range CS1>95%
  CLCN2	95.00	0	NM_004366.5/ interpretable range CS1>95%
  CLCN5	95.00	0	NM_000084.4/ interpretable range CS1>95%
  CLCNKA	95.00	0	NM_004070.3/ interpretable range CS1>95%
  CLCNKB	95.00	0	NM_000085.4/ interpretable range CS1>95%
  CLDN10	95.00	0	NM_006984.4/ interpretable range CS1>95%
  CLDN16	95.00	0	NM_006580.3/ interpretable range CS1>95%
  CLDN19	95.00	0	NM_148960.2/ interpretable range CS1>95%
  CNNM2	95.00	0	NM_017649.4/ interpretable range CS1>95%
  COL4A1	95.00	0	NM_001845.5/ interpretable range CS1>95%
  COL4A3	95.00	0	NM_000091.4/ interpretable range CS1>95%
  COL4A4	95.00	0	NM_000092.4/ interpretable range CS1>95%
  COL4A5	95.00	0	NM_000495.4/ interpretable range CS1>95%
  COQ2	95.00	0	NM_015697.8/ interpretable range CS1>95%
  COQ6	95.00	0	NM_182476.2/ interpretable range CS1>95%
  COQ8B	95.00	0	NM_024876.3/ interpretable range CS1>95%
  CRB2	95.00	0	NM_173689.6/ interpretable range CS1>95%
  CTNS	95.00	0	NM_004937.2/ interpretable range CS1>95%
  CUBN	95.00	0	NM_001081.3/ interpretable range CS1>95%
  CUL3	95.00	0	NM_003590.4/ interpretable range CS1>95%
  CYP11B1	95.00	0	NM_000497.3/ interpretable range CS1>95%
  CYP11B2	95.00	0	NM_000498.3/ interpretable range CS1>95%
  CYP17A1	95.00	0	NM_000102.3/ interpretable range CS1>95%
  CYP24A1	95.00	0	NM_000782.4/ interpretable range CS1>95%
  DGKE	95.00	0	NM_003647.2/ interpretable range CS1>95%
  DLEC1	95.00	0	NM_182643.2/ interpretable range CS1>95%
  DNAJB11	95.00	0	NM_016306.5/ interpretable range CS1>95%
  DSTYK	95.00	0	NM_015375.2/ interpretable range CS1>95%
  DZIP1L	95.00	0	NM_173543.2/ interpretable range CS1>95%
  EGF	95.00	0	NM_001963.5/ interpretable range CS1>95%
  EHHADH	95.00	0	NM_001966.3/ interpretable range CS1>95%
  EMP2	95.00	0	NM_001424.5/ interpretable range CS1>95%
  EYA1	95.00	0	NM_000503.5/ interpretable range CS1>95%
  FAM20A	95.00	0	NM_017565.3/ interpretable range CS1>95%
  FAN1	95.00	0	NM_014967.4/ interpretable range CS1>95%
  FAT1	95.00	0	NM_005245.3/ interpretable range CS1>95%
  FGA	95.00	0	NM_021871.3/ interpretable range CS1>95%
  FGF20	95.00	0	NM_019851.2/ interpretable range CS1>95%
  FGF23	95.00	0	NM_020638.2/ interpretable range CS1>95%
  FN1	95.00	0	NM_212482.2/ interpretable range CS1>95%
  FOXC1	95.00	0	NM_001453.2/ interpretable range CS1>95%
  FOXC2	95.00	0	NM_005251.2/ interpretable range CS1>95%
  FOXI1	95.00	0	NM_012188.4/ interpretable range CS1>95%
  FRAS1	95.00	0	NM_025074.6/ interpretable range CS1>95%
  FREM1	95.00	0	NM_144966.5/ interpretable range CS1>95%
  FREM2	95.00	0	NM_207361.5/ interpretable range CS1>95%
  FXYD2	95.00	0	NM_001680.4/ interpretable range CS1>95%
  GANAB	95.00	0	NM_198335.3/ interpretable range CS1>95%
  GATA3	95.00	0	NM_001002295.1/ interpretable range CS1>95%
  GATM	95.00	0	NM_001482.2/ interpretable range CS1>95%
  GDNF	95.00	0	NM_000514.3/ interpretable range CS1>95%
  GLA	95.00	0	NM_000169.2/ interpretable range CS1>95%
  GLIS2	95.00	0	NM_032575.2/ interpretable range CS1>95%
  GNA11	95.00	0	NM_002067.4/ interpretable range CS1>95%
  GREB1L	95.00	0	NM_001142966.2/ interpretable range CS1>95%
  GRHPR	95.00	0	NM_012203.1/ interpretable range CS1>95%
  GRIP1	95.00	0	NM_021150.3/ interpretable range CS1>95%
  GSN	95.00	0	NM_000177.4/ interpretable range CS1>95%
  HNF1A	95.00	0	NM_000545.6/ interpretable range CS1>95%
  HNF1B	95.00	0	NM_000458.3/ interpretable range CS1>95%
  HNF4A	95.00	0	NM_175914.4/ interpretable range CS1>95%
  HOGA1	95.00	0	NM_138413.3/ interpretable range CS1>95%
  HOXA13	95.00	0	NM_000522.4/ interpretable range CS1>95%
  HPRT1	95.00	0	NM_000194.2/ interpretable range CS1>95%
  HPSE2	95.00	0	NM_021828.4/ interpretable range CS1>95%
  HSD11B2	95.00	0	NM_000196.3/ interpretable range CS1>95%
  IFT81	95.00	0	NM_014055.3/ interpretable range CS1>95%
  INF2	95.00	0	NM_022489.3/ interpretable range CS1>95%
  INVS	95.00	0	NM_014425.4/ interpretable range CS1>95%
  ITGA8	95.00	0	NM_003638.2/ interpretable range CS1>95%
  ITSN1	95.00	0	NM_003024.2/ interpretable range CS1>95%
  ITSN2	95.00	0	NM_147152.2/ interpretable range CS1>95%
  JAG1	95.00	0	NM_000214.2/ interpretable range CS1>95%
  KANK2	95.00	0	NM_001136191.2/ interpretable range CS1>95%
  KCNA1	95.00	0	NM_000217.2/ interpretable range CS1>95%
  KCNJ1	95.00	0	NM_000220.4/ interpretable range CS1>95%
  KCNJ10	95.00	0	NM_002241.4/ interpretable range CS1>95%
  KCNJ5	95.00	0	NM_000890.4/ interpretable range CS1>95%
  KL	95.00	0	NM_004795.3/ interpretable range CS1>95%
  KLHL3	95.00	0	NM_017415.2/ interpretable range CS1>95%
  LAMB2	95.00	0	NM_002292.3/ interpretable range CS1>95%
  LCAT	95.00	0	NM_000229.1/ interpretable range CS1>95%
  LDHD	95.00	0	NM_153486.3/ interpretable range CS1>95%
  LHX1	95.00	0	NM_005568.4/ interpretable range CS1>95%
  LMX1B	95.00	0	NM_002316.3/ interpretable range CS1>95%
  LRIG2	95.00	0	NM_014813.2/ interpretable range CS1>95%
  LRP2	95.00	0	NM_004525.2/ interpretable range CS1>95%
  LYZ	95.00	0	NM_000239.2/ interpretable range CS1>95%
  MAGED2	95.00	0	NM_177433.2/ interpretable range CS1>95%
  MAGI2	95.00	0	NM_012301.3/ interpretable range CS1>95%
  MAPKBP1	95.00	0	NM_001128608.1/ interpretable range CS1>95%
  MMACHC	95.00	0	NM_015506.2/ interpretable range CS1>95%
  MOCOS	95.00	0	NM_017947.3/ interpretable range CS1>95%
  MUC1	95.00	0	NM_002456.5/ interpretable range CS1>95%
  MYH11	95.00	0	NM_002474.2/ interpretable range CS1>95%
  MYH9	95.00	0	NM_002473.5/ interpretable range CS1>95%
  MYO1E	95.00	0	NM_004998.3/ interpretable range CS1>95%
  MYOCD	95.00	0	NM_001146312.2/ interpretable range CS1>95%
  NEK9	95.00	0	NM_178170.2/ interpretable range CS1>95%
  NOTCH2	95.00	0	NM_024408.3/ interpretable range CS1>95%
  NPHP1	95.00	0	NM_000272.3/ interpretable range CS1>95%
  NPHP3	95.00	0	NM_153240.4/ interpretable range CS1>95%
  NPHP4	95.00	0	NM_015102.4/ interpretable range CS1>95%
  NPHS1	95.00	0	NM_004646.3/ interpretable range CS1>95%
  NPHS2	95.00	0	NM_014625.3/ interpretable range CS1>95%
  NR3C1	95.00	0	NM_001018077.1/ interpretable range CS1>95%
  NR3C2	95.00	0	NM_000901.4/ interpretable range CS1>95%
  NUP107	95.00	0	NM_020401.3/ interpretable range CS1>95%
  NUP133	95.00	0	NM_018230.2/ interpretable range CS1>95%
  NUP160	95.00	0	NM_015231.2/ interpretable range CS1>95%
  NUP85	95.00	0	NM_024844.4/ interpretable range CS1>95%
  NUP93	95.00	0	NM_014669.4/ interpretable range CS1>95%
  OCRL	95.00	0	NM_000276.3/ interpretable range CS1>95%
  OFD1	95.00	0	NM_003611.2/ interpretable range CS1>95%
  PAX2	95.00	0	NM_003987.4/ interpretable range CS1>95%
  PBX1	95.00	0	NM_002585.3/ interpretable range CS1>95%
  PCBD1	95.00	0	NM_000281.3/ interpretable range CS1>95%
  PHEX	95.00	0	NM_000444.5/ interpretable range CS1>95%
  PKD1	95.00	0	NM_001009944.2/ interpretable range CS1>95%
  PKD2	95.00	0	NM_000297.3/ interpretable range CS1>95%
  PKHD1	95.00	0	NM_138694.3/ interpretable range CS1>95%
  PLCE1	95.00	0	NM_016341.3/ interpretable range CS1>95%
  PODXL	95.00	0	NM_005397.3/ interpretable range CS1>95%
  PRPS1	95.00	0	NM_002764.3/ interpretable range CS1>95%
  REN	95.00	0	NM_000537.3/ interpretable range CS1>95%
  RET	95.00	0	NM_020975.5/ interpretable range CS1>95%
  ROBO2	95.00	0	NM_002942.4/ interpretable range CS1>95%
  SALL1	95.00	0	NM_002968.2/ interpretable range CS1>95%
  SARS2	95.00	0	NM_017827.3/ interpretable range CS1>95%
  SCARB2	95.00	0	NM_005506.3/ interpretable range CS1>95%
  SCNN1A	95.00	0	NM_001038.5/ interpretable range CS1>95%
  SCNN1B	95.00	0	NM_000336.2/ interpretable range CS1>95%
  SCNN1G	95.00	0	NM_001039.3/ interpretable range CS1>95%
  SDCCAG8	95.00	0	NM_006642.4/ interpretable range CS1>95%
  SEC61A1	95.00	0	NM_013336.3/ interpretable range CS1>95%
  SGPL1	95.00	0	NM_003901.3/ interpretable range CS1>95%
  SIX1	95.00	0	NM_005982.3/ interpretable range CS1>95%
  SIX5	95.00	0	NM_175875.4/ interpretable range CS1>95%
  SLC12A1	95.00	0	NM_000338.2/ interpretable range CS1>95%
  SLC12A3	95.00	0	NM_000339.2/ interpretable range CS1>95%
  SLC22A12	95.00	0	NM_144585.3/ interpretable range CS1>95%
  SLC2A2	95.00	0	NM_000340.1/ interpretable range CS1>95%
  SLC2A9	95.00	0	NM_020041.2/ interpretable range CS1>95%
  SLC34A1	95.00	0	NM_003052.4/ interpretable range CS1>95%
  SLC34A3	95.00	0	NM_080877.2/ interpretable range CS1>95%
  SLC3A1	95.00	0	NM_000341.3/ interpretable range CS1>95%
  SLC4A1	95.00	0	NM_000342.3/ interpretable range CS1>95%
  SLC4A4	95.00	0	NM_003759.3/ interpretable range CS1>95%
  SLC5A2	95.00	0	NM_003041.3/ interpretable range CS1>95%
  SLC7A9	95.00	0	NM_014270.4/ interpretable range CS1>95%
  SMARCAL1	95.00	0	NM_014140.3/ interpretable range CS1>95%
  TBC1D8B	95.00	0	NM_017752.2/ interpretable range CS1>95%
  TBX18	95.00	0	NM_001080508.2/ interpretable range CS1>95%
  THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
  TNS2	95.00	0	NM_015319.2/ interpretable range CS1>95%
  TRAF3IP1	95.00	0	NM_015650.3/ interpretable range CS1>95%
  TRAP1	95.00	0	NM_016292.2/ interpretable range CS1>95%
  TRPC6	95.00	0	NM_004621.5/ interpretable range CS1>95%
  TRPM6	95.00	0	NM_017662.4/ interpretable range CS1>95%
  TSC1	95.00	0	NM_000368.4/ interpretable range CS1>95%
  TSC2	95.00	0	NM_000548.4/ interpretable range CS1>95%
  TTC21B	95.00	0	NM_024753.4/ interpretable range CS1>95%
  TTR	95.00	0	NM_000371.3/ interpretable range CS1>95%
  UMOD	95.00	0	NM_003361.3/ interpretable range CS1>95%
  VHL	95.00	0	NM_000551.3/ interpretable range CS1>95%
  WDR19	95.00	0	NM_025132.3/ interpretable range CS1>95%
  WDR72	95.00	0	NM_182758.3/ interpretable range CS1>95%
  WFS1	95.00	0	NM_006005.3/ interpretable range CS1>95%
  WNK1	95.00	0	NM_018979.3/ interpretable range CS1>95%
  WNK4	95.00	0	NM_032387.4/ interpretable range CS1>95%
  WNT4	95.00	0	NM_030761.4/ interpretable range CS1>95%
  WT1	95.00	0	NM_024426.5/ interpretable range CS1>95%
  XDH	95.00	0	NM_000379.3/ interpretable range CS1>95%
  XPNPEP3	95.00	0	NM_022098.3/ interpretable range CS1>95%

• Neuromuscular disorders (232 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  NEB	88.70	0	NM_001271208.1
  SELENON	92.30	0	NM_020451.2
  TSEN54	97.70	0	NM_207346.2
  DOK7	97.90	0	NM_173660.4
  ORAI1	97.90	0	NM_032790.3
  CRPPA	98.60	0	NM_001101426.3
  PGAM2	98.80	0	NM_000290.3
  AGRN	99.00	0	NM_198576.3
  HSPB1	99.00	0	NM_001540.4
  POMT2	99.00	0	NM_013382.5
  CACNA1H	99.10	0	NM_021098.2
  RYR1	99.10	0	NM_000540.2
  SPTBN4	99.30	0	NM_020971.2
  TNNT1	99.50	0	NM_003283.5
  HSPG2	99.50	0	NM_005529.6
  CAPN3	99.60	0	NM_000070.2
  GMPPB	99.60	0	NM_013334.3
  ACADVL	99.60	0	NM_000018.3
  LAMA5	99.60	0	NM_005560.4
  B3GALNT2	99.70	0	NM_152490.4
  SCN4A	99.70	0	NM_000334.4
  ISCU	99.70	0	NM_213595.3
  MATR3	99.70	0	NM_199189.2
  SLC16A1	99.80	0	NM_003051.3
  COL6A1	99.80	0	NM_001848.2
  CHD8	99.80	0	NM_001170629.1
  RAPSN	99.80	0	NM_005055.4
  CACNA1A	99.80	0	NM_001127221.1
  MYH7B	99.80	0	NM_024729.3
  DCST2	99.80	0	NM_144622.2
  CHRNE	99.80	0	NM_000080.3
  SGCG	99.90	0	NM_000231.2
  DYSF	99.90	0	NM_003494.3
  MYL2	99.90	0	NM_000432.3
  CHRNA1	99.90	0	NM_000079.3
  ECEL1	99.90	0	NM_004826.3
  PNPLA2	99.90	0	NM_020376.3
  FXR1	99.90	0	NM_005087.3
  TTN	99.90	0	NM_133378.4
  PNPLA8	99.90	0	NM_015723.4
  ATP2A1	99.90	0	NM_173201.3
  COL6A2	99.90	0	NM_001849.3
  MYBPC3	99.90	0	NM_000256.3
  VCP	99.90	0	NM_007126.4
  TRDN	99.90	0	NM_006073.3
  GYS1	99.90	0	NM_002103.4
  ALG13	99.90	0	NM_001099922.2
  MYO18B	99.90	0	NM_032608.6
  TK2	99.90	0	NM_004614.4
  PHKB	99.90	0	NM_000293.2
  SYT2	99.90	0	NM_177402.4
  LDHA	99.90	0	NM_005566.3
  LMNA	99.90	0	NM_170707.3
  CFL2	99.90	0	NM_021914.7
  TIA1	100.00	0	NM_022173.3
  MYF6	100.00	0	NM_002469.2
  KCNJ18	100.00	0	NM_001194958.2
  DPM1	100.00	0	NM_003859.2
  HNRNPDL	100.00	0	NM_031372.3
  TPM2	100.00	0	NM_003289.3
  CACNA1S	100.00	0	NM_000069.2
  FLNC	100.00	0	NM_001458.4
  CHRNB1	100.00	0	NM_000747.2
  CCDC78	100.00	0	NM_001031737.2
  ETFA	100.00	0	NM_000126.3
  DNAJB6	100.00	0	NM_058246.3
  DMPK	100.00	0	NM_001081563.2
  CORIN	100.00	0	NM_002334.3
  HACD1	100.00	0	NM_014241.3
  EMD	100.00	0	NM_000117.2
  TRIP4	100.00	0	NM_016213.4
  MYL1	100.00	0	NM_079420.2
  ETFDH	100.00	0	NM_004453.3
  FKRP	100.00	0	NM_024301.4
  DNA2	100.00	0	NM_001080449.2
  PLEC	100.00	0	NM_000445.4
  PABPN1	100.00	0	NM_004643.3
  SPEG	100.00	0	NM_005876.4
  ITGA7	100.00	0	NM_002206.2
  POMT1	100.00	0	NM_007171.3
  GFPT1	100.00	0	NM_002056.3
  SYNE1	100.00	0	NM_033071.3
  LPIN1	100.00	0	NM_145693.3
  ENO3	100.00	0	NM_053013.3
  GOLGA2	100.00	0	NM_004486.4
  CHKB	100.00	0	NM_005198.4
  AMPD1	100.00	0	NM_000036.2
  ACTA1	100.00	0	NM_001100.3
  ACVR1	100.00	0	NM_001105.4
  HADHB	100.00	0	NM_000183.2
  KCNA1	100.00	0	NM_000217.2
  ANO5	100.00	0	NM_213599.2
  INPP5K	100.00	0	NM_016532.3
  SMCHD1	100.00	0	NM_015295.2
  ADSS1	100.00	0	NM_199165.2
  TRIM63	100.00	0	NM_032588.3
  COL13A1	100.00	0	NM_001130103.1
  TOP3A	100.00	0	NM_004618.4
  COL12A1	100.00	0	NM_004370.5
  MYPN	100.00	0	NM_032578.3
  SYNE2	100.00	0	NM_182914.2
  ACTN2	100.00	0	NM_001103.3
  PREPL	100.00	0	NM_006036.4
  MYH3	100.00	0	NM_002470.3
  SGCB	100.00	0	NM_000232.4
  PHKA1	100.00	0	NM_002637.3
  CLCN1	100.00	0	NM_000083.2
  KBTBD13	100.00	0	NM_001101362.2
  CHAT	100.00	0	NM_020549.4
  AGL	100.00	0	NM_000642.2
  MUSK	100.00	0	NM_005592.3
  CASQ1	100.00	0	NM_001231.4
  ACADS	100.00	0	NM_000017.3
  PYGM	100.00	0	NM_005609.3
  GAA	100.00	0	NM_000152.4
  TRAPPC11	100.00	0	NM_021942.5
  MYO9A	100.00	0	NM_006901.3
  COL6A3	100.00	0	NM_004369.3
  DMD	100.00	0	NM_004006.2
  MYH7	100.00	0	NM_000257.3
  MYBPC1	100.00	0	NM_002465.3
  RYR3	100.00	0	NM_001036.4
  ABHD5	100.00	0	NM_016006.5
  ACAD9	100.00	0	NM_014049.4
  ACADL	100.00	0	NM_001608.3
  ACADM	100.00	0	NM_000016.5
  ALDOA	100.00	0	NM_000034.3
  ALG14	100.00	0	NM_144988.3
  ALG2	100.00	0	NM_033087.3
  ATP1A2	100.00	0	NM_000702.3
  B4GAT1	100.00	0	NM_006876.2
  BAG3	100.00	0	NM_004281.3
  BIN1	100.00	0	NM_139343.2
  BVES	100.00	0	NM_007073.4
  CAV3	100.00	0	NM_033337.2
  CAVIN1	100.00	0	NM_012232.5
  CHRND	100.00	0	NM_000751.2
  CHRNG	100.00	0	NM_005199.4
  CNTN1	100.00	0	NM_001843.3
  COLQ	100.00	0	NM_005677.3
  CPT2	100.00	0	NM_000098.2
  CRYAB	100.00	0	NM_001885.2
  DAG1	100.00	0	NM_004393.5
  DES	100.00	0	NM_001927.3
  DNM2	100.00	0	NM_001005360.2
  DOLK	100.00	0	NM_014908.3
  DPAGT1	100.00	0	NM_001382.3
  DPM2	100.00	0	NM_003863.3
  DPM3	100.00	0	NM_153741.1
  ETFB	100.00	0	NM_001985.2
  EXOSC3	100.00	0	NM_016042.3
  CFH	100.00	0	NM_001449.4
  FKBP14	100.00	0	NM_017946.3
  FKTN	100.00	0	NM_001079802.1
  FLAD1	100.00	0	NM_025207.4
  GBE1	100.00	0	NM_000158.3
  GGPS1	100.00	0	NM_001037277.1
  GNE	100.00	0	NM_001128227.2
  GYG1	100.00	0	NM_004130.3
  HADH	100.00	0	NM_005327.4
  HADHA	100.00	0	NM_000182.4
  HINT1	100.00	0	NM_005340.6
  HNRNPA1	100.00	0	NM_031157.3
  HNRNPA2B1	100.00	0	NM_031243.2
  HRAS	100.00	0	NM_005343.3
  HSPB8	100.00	0	NM_014365.2
  KCNE3	100.00	0	NM_005472.4
  KCNJ2	100.00	0	NM_000891.2
  KLHL40	100.00	0	NM_152393.3
  KLHL41	100.00	0	NM_006063.2
  KLHL9	100.00	0	NM_018847.3
  KY	100.00	0	NM_178554.5
  LAMA2	100.00	0	NM_000426.3
  LAMB2	100.00	0	NM_002292.3
  LAMP2	100.00	0	NM_002294.2
  LARGE1	100.00	0	NM_004737.6
  LDB3	100.00	0	NM_001080116.1
  LIMS2	100.00	0	NM_001136037.2
  LMOD3	100.00	0	NM_198271.4
  MAP3K20	100.00	0	NM_016653.2
  MB	100.00	0	NM_005368.2
  MEGF10	100.00	0	NM_032446.2
  MSTN	100.00	0	NM_005259.2
  MTM1	100.00	0	NM_000252.2
  MTMR14	100.00	0	NM_022485.4
  MYH2	100.00	0	NM_017534.5
  MYH8	100.00	0	NM_002472.2
  MYMK	100.00	0	NM_001080483.2
  MYOT	100.00	0	NM_006790.2
  MED12	100.00	0	NM_015560.2
  P4HA1	100.00	0	NM_001017962.2
  PAX7	100.00	0	NM_002584.2
  PDHA1	100.00	0	NM_000284.3
  PFKM	100.00	0	NM_000289.5
  PGK1	100.00	0	NM_000291.3
  PGM1	100.00	0	NM_002633.2
  POGLUT1	100.00	0	NM_152305.2
  POLG	100.00	0	NM_002693.2
  POLG2	100.00	0	NM_007215.3
  POMGNT1	100.00	0	NM_017739.3
  POMGNT2	100.00	0	NM_032806.5
  POMK	100.00	0	NM_032237.4
  POPDC3	100.00	0	NM_022361.4
  PRKAG2	100.00	0	NM_016203.3
  PYROXD1	100.00	0	NM_024854.4
  RBCK1	100.00	0	NM_031229.3
  RXYLT1	100.00	0	NM_014254.2
  SBDS	100.00	0	NM_016038.3
  SGCA	100.00	0	NM_000023.3
  SGCD	100.00	0	NM_000337.5
  SIL1	100.00	0	NM_022464.4
  SLC18A3	100.00	0	NM_003055.2
  SLC22A5	100.00	0	NM_003060.3
  SLC25A20	100.00	0	NM_000387.5
  SLC5A7	100.00	0	NM_021815.4
  SNAP25	100.00	0	NM_130811.3
  SQSTM1	100.00	0	NM_003900.4
  STAC3	100.00	0	NM_145064.2
  STIM1	100.00	0	NM_003156.3
  WWTR1	100.00	0	NM_000116.4
  TCAP	100.00	0	NM_003673.3
  TMEM126B	100.00	0	NM_018480.5
  TMEM43	100.00	0	NM_024334.2
  TNNI2	100.00	0	NM_003282.3
  TNNT3	100.00	0	NM_006757.3
  TNPO3	100.00	0	NM_012470.3
  TOR1AIP1	100.00	0	NM_001267578.1
  TPM3	100.00	0	NM_152263.3
  TRIM32	100.00	0	NM_012210.3
  UNC45B	100.00	0	NM_173167.3
  VAMP1	100.00	0	NM_014231.4
  VMA21	100.00	0	NM_001017980.3

• Pancreatic Cancer (9 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CDKN2A	100.00	1
  MLH1	100.00	1
  MSH2	100.00	1
  MSH6	100.00	1
  BRCA1	100.00	1
  BRCA2	100.00	1
  PALB2	100.00	1
  TP53	100.00	1
  STK11	100.00	1

• Paraganglioma-pheochromocytoma (7 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  SDHA	100.00	1
  SDHB	100.00	1
  SDHC	100.00	1
  SDHD	100.00	1
  SDHAF2	100.00	1
  RET	100.00	1
  VHL	100.00	1

• Parkinson (18 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  PRKN	100.00	0	Core gene / NM_004562.2
  LRRK2	100.00	0	Core gene / NM_198578.3
  PARK7	100.00	0	Core gene / NM_007262.4
  SNCA	100.00	0	Core gene / NM_000345.3
  PINK1	100.00	0	Core gene / NM_032409.2
  VPS35	100.00	0	Core gene / NM_018206.5
  ATP13A2	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_022089.3
  ATP1A3	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_152296.5
  ATP6AP2	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_005765.2
  CHCHD2	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_016139.3
  DNAJC13	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_015268.3
  DNAJC6	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_001256864.1
  FBXO7	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_012179.3
  PLA2G6	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_003560.3
  RAB39B	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_171998.3
  SYNJ1	100.00	0	genes that may be associated with an inherited form of disease of Parkinson / NM_003895.3
  GBA	100.00	0	risk factor genes / NM_001005741.2
  GCH1	100.00	0	risk factor genes / NM_000161.2

• Primary Arterial Hypertension (18 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACVRL1	100.00	0	NM_000020.2
  AQP1	100.00	0	NM_198098.3
  ATP13A3	100.00	0	NM_024524.3
  BMPR1B	100.00	0	NM_001203.2
  BMPR2	100.00	0	NM_001204.6
  CAV1	100.00	0	NM_001753.4
  EIF2AK4	100.00	0	NM_001013703.3
  ENG	100.00	0	NM_000118.3
  EPHB4	100.00	0	NM_004444.4
  GDF2	100.00	0	NM_016204.3
  KCNA5	100.00	0	NM_002234.3
  KCNK3	100.00	0	NM_002246.2
  KDR	100.00	0	NM_002253.3
  GARS1	100.00	0	NM_005900.2
  SMAD4	100.00	0	NM_005359.5
  SMAD9	100.00	0	NM_001127217.2
  SOX17	100.00	0	NM_022454.3
  TBX4	100.00	0	NM_018488.3

• Primary Ciliary Dyskinesia (59 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ODAD2	100.00	0	NM_018076.5
  CCDC103	100.00	0	NM_213607.3
  ODAD1	100.00	0	NM_144577.4
  ODAD3	100.00	0	NM_145045.5
  CCDC39	100.00	0	NM_181426.2
  CCDC40	100.00	0	NM_017950.4
  CCDC65	100.00	0	NM_033124.5
  CCNO	100.00	0	NM_021147.5
  CFAP251	100.00	0	NM_144668.6
  CFAP298	100.00	0	NM_021254.4
  CFAP300	100.00	0	NM_032930.3
  CFAP45	100.00	0	NM_012337.3
  CFAP53	100.00	0	NM_145020.5
  CFAP57	100.00	0	NM_152498.3
  CFAP74	100.00	0	NM_001304360.2
  DNAAF1	100.00	0	NM_178452.6
  DNAAF2	100.00	0	NM_018139.2
  DNAAF3	100.00	0	NM_001256714.1
  DNAAF4	100.00	0	NM_130810.4
  DNAAF5	100.00	0	NM_017802.4
  DNAAF6	100.00	0	NM_001169154.2
  DNAH11	100.00	0	NM_001277115.2
  DNAH17	100.00	0	NM_173628.4
  DNAH2	100.00	0	NM_020877.5
  DNAH5	100.00	0	NM_001369.3
  DNAH6	100.00	0	NM_001370.2
  DNAH8	100.00	0	NM_001206927.2
  DNAH9	100.00	0	NM_031427.4
  DNAI1	100.00	0	NM_012144.4
  DNAI2	100.00	0	NM_023036.5
  DNAJB13	100.00	0	NM_153614.4
  DRC1	100.00	0	NM_145038.5
  ENKUR	100.00	0	NM_145010.4
  FOXJ1	100.00	0	NM_001454.4
  GAS2L2	100.00	0	NM_139285.4
  GAS8	100.00	0	NM_001481.3
  HYDIN	100.00	0	NM_001270974.2
  LRRC56	100.00	0	NM_198075.4
  DNAAF11	100.00	0	NM_012472.6
  MCIDAS	100.00	0	NM_001190787.3
  MNS1	100.00	0	NM_018365.4
  NEK10	100.00	0	NM_199347.4
  NME5	100.00	0	NM_003551.3
  NME8	100.00	0	NM_016616.5
  OFD1	100.00	0	NM_003611.3
  RPGR	100.00	0	NM_000328.3
  RSPH1	100.00	0	NM_080860.4
  RSPH3	100.00	0	NM_031924.8
  RSPH4A	100.00	0	NM_001010892.3
  RSPH9	100.00	0	NM_152732.5
  SPAG1	100.00	0	NM_172218.3
  SPEF2	100.00	0	NM_024867.4
  STK36	100.00	0	NM_015690.5
  TEKT1	100.00	0	NM_053285.2
  TP73	100.00	0	NM_005427.4
  TTC12	100.00	0	NM_017868.4
  ODAD4	100.00	0	NM_031421.5
  ZMYND10	100.00	0	NM_015896.4

• Primary immune deficiencies (444 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACD	95.00	0	NM_001082486.1/ interpretable range CS1>95%
  ACP5	95.00	0	NM_001111035.2/ interpretable range CS1>95%
  ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
  ADA	95.00	0	NM_000022.3/ interpretable range CS1>95%
  ADA2	95.00	1	NM_001282225.1/ interpretable range CS1>95%
  ADAM17	95.00	0	NM_003183.6/ interpretable range CS1>95%
  ADAR	95.00	0	NM_001111.5/ interpretable range CS1>95%
  AICDA	95.00	0	NM_020661.3/ interpretable range CS1>95%
  AIRE	95.00	0	NM_000383.3/ interpretable range CS1>95%
  AK2	95.00	0	NM_001625.3/ interpretable range CS1>95%
  ALPI	95.00	0	NM_001631.4/ interpretable range CS1>95%
  AP1S3	95.00	0	NM_001039569.1/ interpretable range CS1>95%
  AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
  AP3D1	95.00	0	NM_001261826.3/ interpretable range CS1>95%
  APOL1	95.00	0	NM_003661.3/ interpretable range CS1>95%
  ARPC1B	95.00	0	NM_005720.4/ interpretable range CS1>95%
  ATAD3A	95.00	0	NM_001170535.2/ interpretable range CS1>95%
  ATG4A	95.00	0	NM_052936.4/ interpretable range CS1>95%
  ATM	95.00	0	NM_000051.3/ interpretable range CS1>95%
  ATP6AP1	95.00	0	NM_001183.5/ interpretable range CS1>95%
  ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
  B2M	95.00	0	NM_004048.2/ interpretable range CS1>95%
  BACH2	95.00	0	NM_021813.3/ interpretable range CS1>95%
  BCL10	95.00	0	NM_003921.5/ interpretable range CS1>95%
  BCL11B	95.00	0	NM_138576.3/ interpretable range CS1>95%
  BLM	95.00	0	NM_000057.3/ interpretable range CS1>95%
  BLNK	95.00	0	NM_013314.3/ interpretable range CS1>95%
  BPIFA1	95.00	0	NM_016583.3/ interpretable range CS1>95%
  BTK	95.00	0	NM_000061.2/ interpretable range CS1>95%
  C1QA	95.00	0	NM_015991.3/ interpretable range CS1>95%
  C1QB	95.00	0	NM_000491.4/ interpretable range CS1>95%
  C1QC	95.00	0	NM_172369.4/ interpretable range CS1>95%
  C1R	95.00	0	NM_001733.6/ interpretable range CS1>95%
  C1S	95.00	0	NM_201442.3/ interpretable range CS1>95%
  C2	95.00	0	NM_000063.5/ interpretable range CS1>95%
  C2orf69	95.00	0	NM_153689.5/ interpretable range CS1>95%
  C3	95.00	0	NM_000064.3/ interpretable range CS1>95%
  C5	95.00	0	NM_001735.2/ interpretable range CS1>95%
  C6	95.00	0	NM_000065.3/ interpretable range CS1>95%
  C7	95.00	0	NM_000587.3/ interpretable range CS1>95%
  C8A	95.00	0	NM_000562.2/ interpretable range CS1>95%
  C8B	95.00	0	NM_000066.3/ interpretable range CS1>95%
  C9	95.00	0	NM_001737.4/ interpretable range CS1>95%
  CARD11	95.00	0	NM_032415.5/ interpretable range CS1>95%
  CARD14	95.00	0	NM_024110.4/ interpretable range CS1>95%
  CARD9	95.00	0	NM_052813.4/ interpretable range CS1>95%
  CARMIL2	95.00	0	NM_001013838.2/ interpretable range CS1>95%
  CASP10	95.00	0	NM_032977.3/ interpretable range CS1>95%
  CASP8	95.00	0	NM_001228.4/ interpretable range CS1>95%
  CCBE1	95.00	0	NM_133459.4/ interpretable range CS1>95%
  CD19	95.00	0	NM_001770.5/ interpretable range CS1>95%
  CD247	95.00	0	NM_198053.2/ interpretable range CS1>95%
  CD27	95.00	0	NM_001242.4/ interpretable range CS1>95%
  CD28	95.00	0	NM_006139.3/ interpretable range CS1>95%
  CD3D	95.00	0	NM_000732.4/ interpretable range CS1>95%
  CD3E	95.00	0	NM_000733.3/ interpretable range CS1>95%
  CD3G	95.00	0	NM_000073.2/ interpretable range CS1>95%
  CD4	95.00	0	NM_000616.4/ interpretable range CS1>95%
  CD40	95.00	0	NM_001250.5/ interpretable range CS1>95%
  CD40LG	95.00	0	NM_000074.2/ interpretable range CS1>95%
  CD46	95.00	0	NM_002389.4/ interpretable range CS1>95%
  CD48	95.00	0	NM_001778.3/ interpretable range CS1>95%
  CD55	95.00	0	NM_000574.4/ interpretable range CS1>95%
  CD59	95.00	0	NM_203330.2/ interpretable range CS1>95%
  CD70	95.00	0	NM_001252.4/ interpretable range CS1>95%
  CD79A	95.00	0	NM_001783.3/ interpretable range CS1>95%
  CD79B	95.00	0	NM_000626.3/ interpretable range CS1>95%
  CD81	95.00	0	NM_004356.3/ interpretable range CS1>95%
  CD8A	95.00	0	NM_001768.6/ interpretable range CS1>95%
  CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
  CDCA7	95.00	0	NM_031942.4/ interpretable range CS1>95%
  CDH17	95.00	0	NM_004063.3/ interpretable range CS1>95%
  CEBPE	95.00	0	NM_001805.3/ interpretable range CS1>95%
  CFB	95.00	0	NM_001710.5/ interpretable range CS1>95%
  CFD	95.00	0	NM_001928.3/ interpretable range CS1>95%
  CFH	95.00	0	NM_000186.3/ interpretable range CS1>95%
  CFHR1	95.00	0	NM_002113.2/ interpretable range CS1>95%
  CFHR2	95.00	0	NM_005666.3/ interpretable range CS1>95%
  CFHR3	95.00	0	NM_021023.5/ interpretable range CS1>95%
  CFHR4	95.00	0	NM_001201550.2/ interpretable range CS1>95%
  CFHR5	95.00	0	NM_030787.3/ interpretable range CS1>95%
  CFI	95.00	0	NM_000204.4/ interpretable range CS1>95%
  CFP	95.00	0	NM_002621.2/ interpretable range CS1>95%
  CFTR	95.00	0	NM_000492.3/ interpretable range CS1>95%
  CHD7	95.00	0	NM_017780.3/ interpretable range CS1>95%
  CHUK	95.00	0	NM_001278.4/ interpretable range CS1>95%
  CIB1	95.00	0	NM_006384.3/ interpretable range CS1>95%
  CIITA	95.00	0	NM_000246.3/ interpretable range CS1>95%
  CLCN7	95.00	0	NM_001287.5/ interpretable range CS1>95%
  CLPB	95.00	0	NM_030813.5/ interpretable range CS1>95%
  COPA	95.00	0	NM_004371.3/ interpretable range CS1>95%
  COPG1	95.00	0	NM_016128.3/ interpretable range CS1>95%
  CORO1A	95.00	0	NM_007074.3/ interpretable range CS1>95%
  CR2	95.00	0	NM_001006658.2/ interpretable range CS1>95%
  CRACR2A	95.00	0	NM_001144958.1/ interpretable range CS1>95%
  CSF2RB	95.00	0	NM_000395.2/ interpretable range CS1>95%
  CSF3R	95.00	0	NM_000760.3/ interpretable range CS1>95%
  CTC1	95.00	0	NM_025099.5/ interpretable range CS1>95%
  CTLA4	95.00	0	NM_005214.4/ interpretable range CS1>95%
  CTNNBL1	95.00	0	NM_030877.4/ interpretable range CS1>95%
  CTPS1	95.00	0	NM_001905.3/ interpretable range CS1>95%
  CTSC	95.00	0	NM_001814.5/ interpretable range CS1>95%
  CXCR2	95.00	0	NM_001557.3/ interpretable range CS1>95%
  CXCR4	95.00	0	NM_003467.2/ interpretable range CS1>95%
  CYBA	95.00	0	NM_000101.3/ interpretable range CS1>95%
  CYBB	95.00	1	NM_000397.3/ interpretable range CS1>95%
  CYBC1	95.00	0	NM_001033046.3/ interpretable range CS1>95%
  DBR1	95.00	0	NM_016216.3/ interpretable range CS1>95%
  DCLRE1B	95.00	0	NM_022836.3/ interpretable range CS1>95%
  DCLRE1C	95.00	0	NM_001033855.2/ interpretable range CS1>95%
  DDX58	95.00	0	NM_014314.3/ interpretable range CS1>95%
  DEF6	95.00	0	NM_022047.3/ interpretable range CS1>95%
  DGAT1	95.00	0	NM_012079.5/ interpretable range CS1>95%
  DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
  DKC1	95.00	0	NM_001363.4/ interpretable range CS1>95%
  DNAJC21	95.00	0	NM_001012339.3/ interpretable range CS1>95%
  DNASE1	95.00	0	NM_005223.3/ interpretable range CS1>95%
  DNASE1L3	95.00	0	NM_004944.3/ interpretable range CS1>95%
  DNASE2	95.00	0	NM_001375.2/ interpretable range CS1>95%
  DNMT3B	95.00	0	NM_006892.3/ interpretable range CS1>95%
  DOCK2	95.00	0	NM_004946.2/ interpretable range CS1>95%
  DOCK8	95.00	0	NM_203447.3/ interpretable range CS1>95%
  DSG1	95.00	0	NM_001942.3/ interpretable range CS1>95%
  DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
  EFL1	95.00	0	NM_024580.5/ interpretable range CS1>95%
  ELANE	95.00	0	NM_001972.3/ interpretable range CS1>95%
  ELF4	95.00	0	NM_001421.3/ interpretable range CS1>95%
  EPG5	95.00	0	NM_020964.2/ interpretable range CS1>95%
  ERBIN	95.00	0	NM_001253697.1/ interpretable range CS1>95%
  EXTL3	95.00	0	NM_001440.3/ interpretable range CS1>95%
  FADD	95.00	0	NM_003824.3/ interpretable range CS1>95%
  FAS	95.00	0	NM_000043.5/ interpretable range CS1>95%
  FASLG	95.00	0	NM_000639.2/ interpretable range CS1>95%
  FAT4	95.00	0	NM_024582.4/ interpretable range CS1>95%
  FCGR3A	95.00	0	NM_000569.7/ interpretable range CS1>95%
  FCHO1	95.00	0	NM_015122.2/ interpretable range CS1>95%
  FCN3	95.00	0	NM_003665.3/ interpretable range CS1>95%
  FERMT1	95.00	0	NM_017671.4/ interpretable range CS1>95%
  FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
  FNIP1	95.00	0	NM_133372.2/ interpretable range CS1>95%
  FOXN1	95.00	0	NM_003593.2/ interpretable range CS1>95%
  FOXP3	95.00	0	NM_014009.3/ interpretable range CS1>95%
  G6PC3	95.00	0	NM_138387.3/ interpretable range CS1>95%
  G6PD	95.00	0	NM_001042351.2/ interpretable range CS1>95%
  GATA2	95.00	1	NM_032638.4/ interpretable range CS1>95%
  GFI1	95.00	0	NM_005263.4/ interpretable range CS1>95%
  GIMAP5	95.00	0	NM_018384.4/ interpretable range CS1>95%
  GIMAP6	95.00	0	NM_001244072.1/ interpretable range CS1>95%
  GINS1	95.00	0	NM_021067.4/ interpretable range CS1>95%
  GUCY2C	95.00	0	NM_004963.3/ interpretable range CS1>95%
  HAVCR2	95.00	0	NM_032782.4/ interpretable range CS1>95%
  HAX1	95.00	0	NM_006118.3/ interpretable range CS1>95%
  HCK	95.00	0	NM_002110.3/ interpretable range CS1>95%
  HELLS	95.00	0	NM_018063.4/ interpretable range CS1>95%
  HTRA2	95.00	0	NM_013247.4/ interpretable range CS1>95%
  HYOU1	95.00	0	NM_006389.4/ interpretable range CS1>95%
  ICOS	95.00	0	NM_012092.3/ interpretable range CS1>95%
  IFIH1	95.00	0	NM_022168.3/ interpretable range CS1>95%
  IFNAR1	95.00	0	NM_000629.2/ interpretable range CS1>95%
  IFNAR2	95.00	0	NM_207585.2/ interpretable range CS1>95%
  IFNG	95.00	0	NM_000619.2/ interpretable range CS1>95%
  IFNGR1	95.00	0	NM_000416.2/ interpretable range CS1>95%
  IFNGR2	95.00	0	NM_005534.3/ interpretable range CS1>95%
  IGLL1	95.00	0	NM_020070.3/ interpretable range CS1>95%
  IKBKB	95.00	0	NM_001556.2/ interpretable range CS1>95%
  IKBKG	95.00	0	NM_001099857.2/ interpretable range CS1>95%
  IKZF1	95.00	0	NM_006060.6/ interpretable range CS1>95%
  IKZF2	95.00	0	NM_001079526.1/ interpretable range CS1>95%
  IKZF3	95.00	0	NM_012481.4/ interpretable range CS1>95%
  IL10	95.00	0	NM_000572.2/ interpretable range CS1>95%
  IL10RA	95.00	0	NM_001558.3/ interpretable range CS1>95%
  IL10RB	95.00	0	NM_000628.4/ interpretable range CS1>95%
  IL12B	95.00	0	NM_002187.2/ interpretable range CS1>95%
  IL12RB1	95.00	0	NM_005535.2/ interpretable range CS1>95%
  IL12RB2	95.00	0	NM_001559.2/ interpretable range CS1>95%
  IL17F	95.00	0	NM_052872.3/ interpretable range CS1>95%
  IL17RA	95.00	0	NM_014339.6/ interpretable range CS1>95%
  IL17RC	95.00	0	NM_153461.3/ interpretable range CS1>95%
  IL18BP	95.00	0	NM_173042.2/ interpretable range CS1>95%
  IL1RN	95.00	0	NM_173841.2/ interpretable range CS1>95%
  IL21	95.00	0	NM_021803.3/ interpretable range CS1>95%
  IL21R	95.00	0	NM_021798.3/ interpretable range CS1>95%
  IL23R	95.00	0	NM_144701.2/ interpretable range CS1>95%
  IL2RA	95.00	0	NM_000417.2/ interpretable range CS1>95%
  IL2RB	95.00	0	NM_000878.4/ interpretable range CS1>95%
  IL2RG	95.00	0	NM_000206.2/ interpretable range CS1>95%
  IL36RN	95.00	0	NM_012275.2/ interpretable range CS1>95%
  IL37	95.00	0	NM_014439.3/ interpretable range CS1>95%
  IL6R	95.00	0	NM_000565.3/ interpretable range CS1>95%
  IL6ST	95.00	0	NM_002184.3/ interpretable range CS1>95%
  IL7	95.00	0	NM_000880.3/ interpretable range CS1>95%
  IL7R	95.00	0	NM_002185.4/ interpretable range CS1>95%
  INO80	95.00	0	NM_017553.2/ interpretable range CS1>95%
  IRAK1	95.00	0	NM_001569.3/ interpretable range CS1>95%
  IRAK4	95.00	0	NM_016123.3/ interpretable range CS1>95%
  IRF2BP2	95.00	0	NM_182972.2/ interpretable range CS1>95%
  IRF3	95.00	0	NM_001571.5/ interpretable range CS1>95%
  IRF4	95.00	0	NM_002460.3/ interpretable range CS1>95%
  IRF7	95.00	0	NM_004031.2/ interpretable range CS1>95%
  IRF8	95.00	0	NM_002163.2/ interpretable range CS1>95%
  IRF9	95.00	0	NM_006084.4/ interpretable range CS1>95%
  ISG15	95.00	0	NM_005101.3/ interpretable range CS1>95%
  ITCH	95.00	0	NM_031483.6/ interpretable range CS1>95%
  ITGB2	95.00	0	NM_000211.4/ interpretable range CS1>95%
  ITK	95.00	0	NM_005546.3/ interpretable range CS1>95%
  ITPKB	95.00	0	NM_002221.3/ interpretable range CS1>95%
  ITPKC	95.00	0	NM_025194.2/ interpretable range CS1>95%
  ITPR3	95.00	0	NM_002224.3/ interpretable range CS1>95%
  JAGN1	95.00	0	NM_032492.3/ interpretable range CS1>95%
  JAK1	95.00	0	NM_002227.3/ interpretable range CS1>95%
  JAK3	95.00	0	NM_000215.3/ interpretable range CS1>95%
  KARS1	95.00	0	NM_001130089.1/ interpretable range CS1>95%
  KMT2A	95.00	0	NM_001197104.1/ interpretable range CS1>95%
  KMT2D	95.00	0	NM_003482.3/ interpretable range CS1>95%
  KPNA2	95.00	0	NM_001320611.1/ interpretable range CS1>95%
  KRAS	95.00	0	NM_004985.4/ interpretable range CS1>95%
  LACC1	95.00	0	NM_001128303.2/ interpretable range CS1>95%
  LAMTOR2	95.00	0	NM_014017.3/ interpretable range CS1>95%
  LAT	95.00	0	NM_001014987.1/ interpretable range CS1>95%
  LCK	95.00	0	NM_001042771.2/ interpretable range CS1>95%
  LCP2	95.00	0	NM_005565.4/ interpretable range CS1>95%
  LIG1	95.00	0	NM_000234.2/ interpretable range CS1>95%
  LIG4	95.00	0	NM_002312.3/ interpretable range CS1>95%
  LPIN2	95.00	0	NM_014646.2/ interpretable range CS1>95%
  LRBA	95.00	0	NM_006726.4/ interpretable range CS1>95%
  LRRC32	95.00	0	NM_005512.2/ interpretable range CS1>95%
  LRRC8A	95.00	0	NM_019594.3/ interpretable range CS1>95%
  LSM11	95.00	0	NM_173491.3/ interpretable range CS1>95%
  LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
  MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
  MALT1	95.00	0	NM_006785.3/ interpretable range CS1>95%
  MAN2B2	95.00	0	NM_015274.2/ interpretable range CS1>95%
  MAP1LC3B2	95.00	0	NM_001085481.2/ interpretable range CS1>95%
  MAP3K14	95.00	0	NM_003954.4/ interpretable range CS1>95%
  MAPK8	95.00	0	NM_139049.3/ interpretable range CS1>95%
  MASP2	95.00	0	NM_006610.3/ interpretable range CS1>95%
  MBL2	95.00	0	NM_000242.2/ interpretable range CS1>95%
  MCM10	95.00	0	NM_182751.2/ interpretable range CS1>95%
  MCM4	95.00	0	NM_005914.3/ interpretable range CS1>95%
  MEFV	95.00	0	NM_000243.2/ interpretable range CS1>95%
  MRTFA	95.00	0	NM_020831.4/ interpretable range CS1>95%
  MOGS	95.00	0	NM_006302.2/ interpretable range CS1>95%
  MPO	95.00	0	NM_000250.1/ interpretable range CS1>95%
  MS4A1	95.00	0	NM_152866.2/ interpretable range CS1>95%
  MSN	95.00	0	NM_002444.2/ interpretable range CS1>95%
  MTHFD1	95.00	0	NM_005956.3/ interpretable range CS1>95%
  MVK	95.00	0	NM_000431.3/ interpretable range CS1>95%
  MYD88	95.00	0	NM_002468.4/ interpretable range CS1>95%
  MYO5B	95.00	0	NM_001080467.2/ interpretable range CS1>95%
  MYSM1	95.00	0	NM_001085487.2/ interpretable range CS1>95%
  NBAS	95.00	0	NM_015909.3/ interpretable range CS1>95%
  NCF1	95.00	0	NM_000265.5/ interpretable range CS1>95%
  NCF2	95.00	0	NM_000433.3/ interpretable range CS1>95%
  NCF4	95.00	0	NM_013416.3/ interpretable range CS1>95%
  NCKAP1	95.00	0	NM_205842.2/ interpretable range CS1>95%
  NCKAP1L	95.00	0	NM_005337.4/ interpretable range CS1>95%
  NCSTN	95.00	0	NM_015331.2/ interpretable range CS1>95%
  NFAT5	95.00	0	NM_138714.3/ interpretable range CS1>95%
  NFE2L2	95.00	0	NM_006164.4/ interpretable range CS1>95%
  NFKB1	95.00	0	NM_003998.3/ interpretable range CS1>95%
  NFKB2	95.00	0	NM_001077494.3/ interpretable range CS1>95%
  NFKBIA	95.00	0	NM_020529.2/ interpretable range CS1>95%
  NHEJ1	95.00	0	NM_024782.2/ interpretable range CS1>95%
  NHP2	95.00	0	NM_017838.3/ interpretable range CS1>95%
  NLRC4	95.00	0	NM_021209.4/ interpretable range CS1>95%
  NLRP1	95.00	0	NM_033004.3/ interpretable range CS1>95%
  NLRP12	95.00	0	NM_144687.3/ interpretable range CS1>95%
  NLRP3	95.00	0	NM_004895.4/ interpretable range CS1>95%
  NOD2	95.00	0	NM_022162.2/ interpretable range CS1>95%
  NOP10	95.00	0	NM_018648.3/ interpretable range CS1>95%
  NOS2	95.00	0	NM_000625.4/ interpretable range CS1>95%
  NRAS	95.00	0	NM_002524.4/ interpretable range CS1>95%
  NSMCE3	95.00	0	NM_138704.3/ interpretable range CS1>95%
  OAS1	95.00	0	NM_016816.3/ interpretable range CS1>95%
  ORAI1	95.00	0	NM_032790.3/ interpretable range CS1>95%
  OSTM1	95.00	0	NM_014028.3/ interpretable range CS1>95%
  OTULIN	95.00	0	NM_138348.5/ interpretable range CS1>95%
  PARN	95.00	0	NM_002582.3/ interpretable range CS1>95%
  PAX1	95.00	0	NM_006192.4/ interpretable range CS1>95%
  PDCD1	95.00	0	NM_005018.2/ interpretable range CS1>95%
  PEPD	95.00	0	NM_000285.3/ interpretable range CS1>95%
  PGM3	95.00	0	NM_001199917.1/ interpretable range CS1>95%
  PI4KA	95.00	0	NM_058004.3/ interpretable range CS1>95%
  PIK3CD	95.00	0	NM_005026.4/ interpretable range CS1>95%
  PIK3CG	95.00	0	NM_002649.3/ interpretable range CS1>95%
  PIK3R1	95.00	0	NM_181523.2/ interpretable range CS1>95%
  PLCG2	95.00	0	NM_002661.4/ interpretable range CS1>95%
  PLEKHM1	95.00	0	NM_014798.2/ interpretable range CS1>95%
  PMS2	95.00	0	NM_000535.6/ interpretable range CS1>95%
  PNP	95.00	0	NM_000270.3/ interpretable range CS1>95%
  POLA1	95.00	0	NM_016937.3/ interpretable range CS1>95%
  POLD1	95.00	0	NM_002691.3/ interpretable range CS1>95%
  POLD2	95.00	0	NM_006230.3/ interpretable range CS1>95%
  POLE	95.00	0	NM_006231.3/ interpretable range CS1>95%
  POLE2	95.00	0	NM_002692.3/ interpretable range CS1>95%
  POLR3A	95.00	0	NM_007055.3/ interpretable range CS1>95%
  POLR3C	95.00	0	NM_001303456.1/ interpretable range CS1>95%
  POLR3E	95.00	0	NM_018119.3/ interpretable range CS1>95%
  POLR3F	95.00	0	NM_001282526.1/ interpretable range CS1>95%
  NT5C3A	95.00	0	NM_015932.5/ interpretable range CS1>95%
  POU2AF1	95.00	0	NM_006235.2/ interpretable range CS1>95%
  PRF1	95.00	0	NM_001083116.2/ interpretable range CS1>95%
  PRKCD	95.00	0	NM_006254.3/ interpretable range CS1>95%
  PRKDC	95.00	0	NM_006904.6/ interpretable range CS1>95%
  PSENEN	95.00	0	NM_172341.3/ interpretable range CS1>95%
  PSMA3	95.00	0	NM_002788.3/ interpretable range CS1>95%
  PSMB10	95.00	0	NM_002801.3/ interpretable range CS1>95%
  PSMB4	95.00	0	NM_002796.2/ interpretable range CS1>95%
  PSMB8	95.00	0	NM_148919.3/ interpretable range CS1>95%
  PSMB9	95.00	0	NM_002800.4/ interpretable range CS1>95%
  PSMG2	95.00	0	NM_147163.1/ interpretable range CS1>95%
  PSTPIP1	95.00	0	NM_003978.4/ interpretable range CS1>95%
  PTEN	95.00	0	NM_000314.6/ interpretable range CS1>95%
  PTPN2	95.00	0	NM_002828.3/ interpretable range CS1>95%
  PTPRC	95.00	0	NM_002838.4/ interpretable range CS1>95%
  RAB27A	95.00	0	NM_004580.4/ interpretable range CS1>95%
  RAC2	95.00	0	NM_002872.4/ interpretable range CS1>95%
  RAG1	95.00	0	NM_000448.2/ interpretable range CS1>95%
  RAG2	95.00	0	NM_000536.3/ interpretable range CS1>95%
  RANBP2	95.00	0	NM_006267.4/ interpretable range CS1>95%
  RASGRP1	95.00	0	NM_005739.3/ interpretable range CS1>95%
  RBCK1	95.00	0	NM_031229.3/ interpretable range CS1>95%
  RC3H1	95.00	0	NM_172071.3/ interpretable range CS1>95%
  RECQL4	95.00	0	NM_004260.3/ interpretable range CS1>95%
  REL	95.00	0	NM_002908.3/ interpretable range CS1>95%
  RELA	95.00	0	NM_021975.3/ interpretable range CS1>95%
  RELB	95.00	0	NM_006509.3/ interpretable range CS1>95%
  RFX5	95.00	0	NM_000449.3/ interpretable range CS1>95%
  RFXANK	95.00	0	NM_003721.3/ interpretable range CS1>95%
  RFXAP	95.00	0	NM_000538.3/ interpretable range CS1>95%
  RHOG	95.00	0	NM_001665.3/ interpretable range CS1>95%
  RHOH	95.00	0	NM_004310.4/ interpretable range CS1>95%
  RIPK1	95.00	0	NM_003804.5/ interpretable range CS1>95%
  RNASEH2A	95.00	0	NM_006397.2/ interpretable range CS1>95%
  RNASEH2B	95.00	0	NM_024570.3/ interpretable range CS1>95%
  RNASEH2C	95.00	0	NM_032193.3/ interpretable range CS1>95%
  RNF168	95.00	0	NM_152617.3/ interpretable range CS1>95%
  RNF31	95.00	0	NM_017999.4/ interpretable range CS1>95%
  RORC	95.00	0	NM_005060.3/ interpretable range CS1>95%
  POLR1A	95.00	0	NM_002945.4/ interpretable range CS1>95%
  RPSA	95.00	0	NM_002295.5/ interpretable range CS1>95%
  RTEL1	95.00	0	NM_032957.4/ interpretable range CS1>95%
  SAMD9	95.00	0	NM_017654.3/ interpretable range CS1>95%
  SAMD9L	95.00	0	NM_152703.4/ interpretable range CS1>95%
  SAMHD1	95.00	0	NM_015474.3/ interpretable range CS1>95%
  SASH3	95.00	0	NM_018990.3/ interpretable range CS1>95%
  SBDS	95.00	0	NM_016038.3/ interpretable range CS1>95%
  SEC61A1	95.00	0	NM_013336.3/ interpretable range CS1>95%
  SEMA4D	95.00	0	NM_006378.3/ interpretable range CS1>95%
  SERPING1	95.00	0	NM_000062.2/ interpretable range CS1>95%
  SH2D1A	95.00	1	NM_002351.4/ interpretable range CS1>95%
  SH3KBP1	95.00	0	NM_031892.2/ interpretable range CS1>95%
  SKIV2L	95.00	0	NM_006929.4/ interpretable range CS1>95%
  SLC11A1	95.00	0	NM_000578.3/ interpretable range CS1>95%
  SLC29A3	95.00	0	NM_018344.5/ interpretable range CS1>95%
  SLC35C1	95.00	0	NM_018389.4/ interpretable range CS1>95%
  SLC37A4	95.00	0	NM_001164277.1/ interpretable range CS1>95%
  SLC39A7	95.00	0	NM_006979.2/ interpretable range CS1>95%
  SLC46A1	95.00	0	NM_080669.5/ interpretable range CS1>95%
  SLC7A7	95.00	0	NM_001126106.2/ interpretable range CS1>95%
  SMARCAL1	95.00	0	NM_014140.3/ interpretable range CS1>95%
  SMARCD2	95.00	0	NM_001098426.1/ interpretable range CS1>95%
  SNORA31	95.00	0	NR_002967.1/ interpretable range CS1>95%
  SNX10	95.00	0	NM_001199835.1/ interpretable range CS1>95%
  SOCS1	95.00	0	NM_003745.1/ interpretable range CS1>95%
  PMP22	95.00	0	NM_004509.3/ interpretable range CS1>95%
  SPI1	95.00	0	NM_001080547.1/ interpretable range CS1>95%
  SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
  SPPL2A	95.00	0	NM_032802.3/ interpretable range CS1>95%
  SRP54	95.00	0	NM_003136.3/ interpretable range CS1>95%
  STAT1	95.00	0	NM_007315.3/ interpretable range CS1>95%
  STAT2	95.00	0	NM_005419.3/ interpretable range CS1>95%
  STAT3	95.00	0	NM_139276.2/ interpretable range CS1>95%
  STAT4	95.00	0	NM_003151.3/ interpretable range CS1>95%
  STAT5B	95.00	0	NM_012448.3/ interpretable range CS1>95%
  STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
  STK4	95.00	0	NM_006282.4/ interpretable range CS1>95%
  STN1	95.00	0	NM_024928.4/ interpretable range CS1>95%
  STX11	95.00	0	NM_003764.3/ interpretable range CS1>95%
  STXBP2	95.00	0	NM_006949.3/ interpretable range CS1>95%
  STXBP3	95.00	0	NM_007269.3/ interpretable range CS1>95%
  SYK	95.00	0	NM_003177.6/ interpretable range CS1>95%
  TAP1	95.00	0	NM_000593.5/ interpretable range CS1>95%
  TAP2	95.00	0	NM_001290043.1/ interpretable range CS1>95%
  TAPBP	95.00	0	NM_003190.4/ interpretable range CS1>95%
  WWTR1	95.00	0	NM_000116.4/ interpretable range CS1>95%
  TBK1	95.00	0	NM_013254.3/ interpretable range CS1>95%
  TBX1	95.00	0	NM_080647.1/ interpretable range CS1>95%
  TBX21	95.00	0	NM_013351.1/ interpretable range CS1>95%
  TCF3	95.00	0	NM_003200.4/ interpretable range CS1>95%
  TCIRG1	95.00	0	NM_006019.3/ interpretable range CS1>95%
  TCN2	95.00	0	NM_000355.3/ interpretable range CS1>95%
  TERT	95.00	0	NM_198253.2/ interpretable range CS1>95%
  TET2	95.00	0	NM_001127208.2/ interpretable range CS1>95%
  TFRC	95.00	0	NM_003234.3/ interpretable range CS1>95%
  TGFB1	95.00	0	NM_000660.6/ interpretable range CS1>95%
  TGFBR1	95.00	0	NM_004612.3/ interpretable range CS1>95%
  TGFBR2	95.00	0	NM_003242.5/ interpretable range CS1>95%
  THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
  TICAM1	95.00	0	NM_182919.3/ interpretable range CS1>95%
  TINF2	95.00	0	NM_001099274.1/ interpretable range CS1>95%
  TLR3	95.00	0	NM_003265.2/ interpretable range CS1>95%
  TLR7	95.00	0	NM_016562.3/ interpretable range CS1>95%
  TLR8	95.00	0	NM_138636.5/ interpretable range CS1>95%
  TMC6	95.00	0	NM_007267.7/ interpretable range CS1>95%
  TMC8	95.00	0	NM_152468.4/ interpretable range CS1>95%
  STING1	95.00	0	NM_198282.3/ interpretable range CS1>95%
  TNFAIP3	95.00	0	NM_006290.3/ interpretable range CS1>95%
  TNFRSF11A	95.00	0	NM_003839.3/ interpretable range CS1>95%
  TNFRSF13B	95.00	0	NM_012452.2/ interpretable range CS1>95%
  TNFRSF13C	95.00	0	NM_052945.3/ interpretable range CS1>95%
  TNFRSF1A	95.00	0	NM_001065.3/ interpretable range CS1>95%
  TNFRSF4	95.00	0	NM_003327.3/ interpretable range CS1>95%
  TNFRSF9	95.00	0	NM_001561.5/ interpretable range CS1>95%
  TNFSF11	95.00	0	NM_003701.3/ interpretable range CS1>95%
  TNFSF12	95.00	0	NM_003809.2/ interpretable range CS1>95%
  TNFSF13	95.00	0	NM_003808.3/ interpretable range CS1>95%
  TOP2B	95.00	0	NM_001068.3/ interpretable range CS1>95%
  TPP2	95.00	0	NM_003291.3/ interpretable range CS1>95%
  TRAF3	95.00	0	NM_003300.3/ interpretable range CS1>95%
  TRAF3IP2	95.00	0	NM_147686.3/ interpretable range CS1>95%
  TREX1	95.00	0	NM_033629.5/ interpretable range CS1>95%
  TRIM22	95.00	0	NM_006074.4/ interpretable range CS1>95%
  TRNT1	95.00	0	NM_182916.2/ interpretable range CS1>95%
  TTC37	95.00	0	NM_014639.3/ interpretable range CS1>95%
  TTC7A	95.00	0	NM_020458.3/ interpretable range CS1>95%
  TYK2	95.00	0	NM_003331.4/ interpretable range CS1>95%
  UBA1	95.00	0	NM_003334.3/ interpretable range CS1>95%
  UNC13D	95.00	0	NM_199242.2/ interpretable range CS1>95%
  UNC93B1	95.00	0	NM_030930.3/ interpretable range CS1>95%
  UNG	95.00	0	NM_080911.2/ interpretable range CS1>95%
  USB1	95.00	0	NM_024598.3/ interpretable range CS1>95%
  USP18	95.00	0	NM_017414.3/ interpretable range CS1>95%
  VPS13B	95.00	0	NM_017890.4/ interpretable range CS1>95%
  VPS45	95.00	0	NM_007259.5/ interpretable range CS1>95%
  WAS	95.00	0	NM_000377.2/ interpretable range CS1>95%
  WDR1	95.00	0	NM_017491.4/ interpretable range CS1>95%
  WIPF1	95.00	0	NM_001077269.1/ interpretable range CS1>95%
  WRAP53	95.00	0	NM_018081.2/ interpretable range CS1>95%
  XIAP	95.00	1	NM_001167.3/ interpretable range CS1>95%
  ZAP70	95.00	0	NM_001079.3/ interpretable range CS1>95%
  ZBTB24	95.00	0	NM_014797.2/ interpretable range CS1>95%
  ZNF341	95.00	0	NM_032819.4/ interpretable range CS1>95%
  ZNFX1	95.00	0	NM_021035.2/ interpretable range CS1>95%

• Prostate cancer (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  BRCA1	100.00	1
  BRCA2	100.00	1
  CHEK2	100.00	1

• Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCA3	100.00	0	NM_001089.2
  ACD	100.00	0	NM_001082486.1
  CSF2RA	100.00	0	NM_006140.4
  CSF2RB	100.00	0	NM_000395.2
  DKC1	100.00	0	NM_001363.4
  GATA2	100.00	0	NM_032638.4
  GBA	100.00	0	NM_001005741.2
  HPS1	100.00	0	NM_000195.3
  HPS4	100.00	0	NM_022081.5
  NHP2	100.00	0	NM_017838.3
  NKX2-1	100.00	0	NM_001079668.2
  PARN	100.00	0	NM_002582.3
  RTEL1	100.00	0	NM_032957.4
  SFTPA1	100.00	0	NM_005411.4
  SFTPA2	100.00	0	NM_001098668.2
  SFTPC	100.00	0	NM_003018.3
  SLC34A2	100.00	0	NM_006424.2
  SMPD1	100.00	0	NM_000543.4
  TERC	100.00	0	NR_001566.1
  TERT	100.00	0	NM_198253.2
  TINF2	100.00	0	NM_001099274.1

• RASopathy - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  A2ML1	95.00	0	research gene + % of coding sequence represents the minimum CS1 interpretable range
  BRAF	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  CBL	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  HRAS	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  KRAS	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  LZTR1	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  MAP2K1	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  MAP2K2	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  MRAS	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  NRAS	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  PPP1CB	95.00	0	core gene +% of coding sequence represents the minimum CS1 interpretable range
  PTPN11	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  RAF1	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  RASA1	95.00	0	research gene + % of coding sequence represents the minimum CS1 interpretable range
  RASA2	95.00	0	research gene + % of coding sequence represents the minimum CS1 interpretable range
  RIT1	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  RRAS	80.00	0	research gene + % of coding sequence represents the minimum CS1 interpretable range
  RRAS2	95.00	0	research gene + % of coding sequence represents the minimum CS1 interpretable range
  SHOC2	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  SOS1	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range
  SOS2	95.00	0	core gene + % of coding sequence represents the minimum CS1 interpretable range

• Schwannoma Predisposition (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  NF2	100.00	1
  SMARCB1	100.00	1
  LZTR1	100.00	1

• Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ATXN1
  ATXN2
  ATXN3
  CACNA1A
  ATXN7

• Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (5 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACVRL1	100.00	1
  ENG	100.00	1
  SMAD4	100.00	0
  GDF2	100.00	0
  EPHB4	100.00	0

• Trombosis - Hemostasis (106 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC4	95.00	0	NM_005845.4/ interpretable range CS1>95%
  ABCG5	95.00	0	NM_022436.2/ interpretable range CS1>95%
  ABCG8	95.00	0	NM_022437.2/ interpretable range CS1>95%
  ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
  ACTN1	95.00	0	NM_001130004.1/ interpretable range CS1>95%
  ACVRL1	95.00	0	NM_000020.2/ interpretable range CS1>95%
  ADAMTS13	95.00	0	NM_139025.4/ interpretable range CS1>95%
  ANKRD26	95.00	0	NM_014915.2/ interpretable range CS1>95%
  ANO6	95.00	0	NM_001025356.2/ interpretable range CS1>95%
  AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
  AP3D1	95.00	0	NM_001261826.1/ interpretable range CS1>95%
  ARPC1B	95.00	0	NM_005720.3/ interpretable range CS1>95%
  BLOC1S3	95.00	0	NM_212550.3/ interpretable range CS1>95%
  BLOC1S5	95.00	0	NM_201280.2/ interpretable range CS1>95%
  BLOC1S6	95.00	0	NM_012388.2/ interpretable range CS1>95%
  CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
  CHST14	95.00	0	NM_130468.3/ interpretable range CS1>95%
  COL1A1	95.00	0	NM_000088.3/ interpretable range CS1>95%
  COL3A1	95.00	0	NM_000090.3/ interpretable range CS1>95%
  COL4A1	95.00	0	NM_001845.5/ interpretable range CS1>95%
  COL4A2	95.00	0	NM_001846.3/ interpretable range CS1>95%
  COL5A1	95.00	0	NM_000093.4/ interpretable range CS1>95%
  COL5A2	95.00	0	NM_000393.3/ interpretable range CS1>95%
  CYCS	95.00	0	NM_018947.5/ interpretable range CS1>95%
  DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
  DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
  ENG	95.00	0	NM_000118.3/ interpretable range CS1>95%
  ETV6	95.00	0	NM_001987.4/ interpretable range CS1>95%
  F10	95.00	0	NM_000504.3/ interpretable range CS1>95%
  F11	95.00	0	NM_000128.3/ interpretable range CS1>95%
  F12	95.00	0	NM_000505.3/ interpretable range CS1>95%
  F13A1	95.00	0	NM_000129.3/ interpretable range CS1>95%
  F13B	95.00	0	NM_001994.2/ interpretable range CS1>95%
  F2	95.00	0	NM_000506.3/ interpretable range CS1>95%
  F5	95.00	0	NM_000130.4/ interpretable range CS1>95%
  F7	95.00	0	NM_000131.4/ interpretable range CS1>95%
  F8	95.00	0	NM_000132.3/ interpretable range CS1>95%
  F9	95.00	0	NM_000133.3/ interpretable range CS1>95%
  FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
  FGA	95.00	0	NM_021871.2/ interpretable range CS1>95%
  FGB	95.00	0	NM_005141.4/ interpretable range CS1>95%
  FGG	95.00	0	NM_000509.4/ interpretable range CS1>95%
  FLII	95.00	0	NM_002017.4/ interpretable range CS1>95%
  FLNA	95.00	0	NM_001456.3/ interpretable range CS1>95%
  FYB1	95.00	0	NM_001465.5/ interpretable range CS1>95%
  GATA1	95.00	0	NM_002049.3/ interpretable range CS1>95%
  GDF2	95.00	0	NM_016204.3/ interpretable range CS1>95%
  GFI1B	95.00	0	NM_004188.5/ interpretable range CS1>95%
  GGCX	95.00	0	NM_000821.5/ interpretable range CS1>95%
  GNE	95.00	0	NM_001128227.2/ interpretable range CS1>95%
  GP1BA	95.00	0	NM_000173.6/ interpretable range CS1>95%
  GP1BB	95.00	0	NM_000407.4/ interpretable range CS1>95%
  GP6	95.00	0	NM_001083899.2/ interpretable range CS1>95%
  GP9	95.00	0	NM_000174.4/ interpretable range CS1>95%
  HOXA11	95.00	0	NM_005523.5/ interpretable range CS1>95%
  HPS1	95.00	0	NM_000195.3/ interpretable range CS1>95%
  HPS3	95.00	0	NM_032383.3/ interpretable range CS1>95%
  HPS4	95.00	0	NM_022081.5/ interpretable range CS1>95%
  HPS5	95.00	0	NM_181507.1/ interpretable range CS1>95%
  HPS6	95.00	0	NM_024747.5/ interpretable range CS1>95%
  HRG	95.00	0	NM_000412.3/ interpretable range CS1>95%
  IKZF5	95.00	0	NM_001271840.1/ interpretable range CS1>95%
  ITGA2B	95.00	0	NM_000419.3/ interpretable range CS1>95%
  ITGB3	95.00	0	NM_000212.2/ interpretable range CS1>95%
  KDSR	95.00	0	NM_002035.2/ interpretable range CS1>95%
  KNG1	95.00	0	NM_001102416.2/ interpretable range CS1>95%
  LMAN1	95.00	0	NM_005570.3/ interpretable range CS1>95%
  LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
  MCFD2	95.00	0	NM_139279.5/ interpretable range CS1>95%
  MECOM	95.00	0	NM_001105078.3/ interpretable range CS1>95%
  MPIG6B	95.00	0	NM_025260.3/ interpretable range CS1>95%
  MPL	95.00	0	NM_005373.2/ interpretable range CS1>95%
  MYH9	95.00	0	NM_002473.5/ interpretable range CS1>95%
  NBEA	95.00	0	NM_015678.4/ interpretable range CS1>95%
  NBEAL2	95.00	0	NM_015175.2/ interpretable range CS1>95%
  P2RY12	95.00	0	NM_022788.4/ interpretable range CS1>95%
  PIGA	95.00	0	NM_002641.3/ interpretable range CS1>95%
  PLA2G4A	95.00	0	NM_024420.2/ interpretable range CS1>95%
  PLAU	95.00	0	NM_002658.3/ interpretable range CS1>95%
  PLG	95.00	0	NM_000301.3/ interpretable range CS1>95%
  PROC	95.00	0	NM_000312.3/ interpretable range CS1>95%
  PROS1	95.00	0	NM_000313.3/ interpretable range CS1>95%
  PTGS1	95.00	0	NM_000962.3/ interpretable range CS1>95%
  RASGRP2	95.00	0	NM_153819.1/ interpretable range CS1>95%
  RBM8A	95.00	0	NM_005105.4/ interpretable range CS1>95%
  RUNX1	95.00	0	NM_001754.4/ interpretable range CS1>95%
  SERPINC1	95.00	0	NM_000488.3/ interpretable range CS1>95%
  SERPIND1	95.00	0	NM_000185.3/ interpretable range CS1>95%
  SERPINE1	95.00	0	NM_000602.4/ interpretable range CS1>95%
  SERPINF2	95.00	0	NM_000934.3/ interpretable range CS1>95%
  SLFN14	95.00	0	NM_001129820.1/ interpretable range CS1>95%
  SMAD4	95.00	0	NM_005359.5/ interpretable range CS1>95%
  SRC	95.00	0	NM_005417.4/ interpretable range CS1>95%
  STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
  STXBP2	95.00	0	NM_006949.3/ interpretable range CS1>95%
  TBXA2R	95.00	0	NM_001060.5/ interpretable range CS1>95%
  TBXAS1	95.00	0	NM_001061.4/ interpretable range CS1>95%
  THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
  THPO	95.00	0	NM_000460.3/ interpretable range CS1>95%
  TPM4	95.00	0	NM_001145160.1/ interpretable range CS1>95%
  TUBB1	95.00	0	NM_030773.3/ interpretable range CS1>95%
  VIPAS39	95.00	0	NM_022067.3/ interpretable range CS1>95%
  VKORC1	95.00	0	NM_024006.4/ interpretable range CS1>95%
  VPS33B	95.00	0	NM_018668.4/ interpretable range CS1>95%
  VWF	95.00	0	NM_000552.3/ interpretable range CS1>95%
  WAS	95.00	0	NM_000377.2/ interpretable range CS1>95%

• Wilms' tumor (2 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  DICER1	100.00	1
  WT1	100.00	1

• chILD (27 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCA3	95.00	0	NM_001089.3 / interpretable range CS1>95%
  AP3B1	95.00	0	NM_003664.5/ interpretable range CS1>95%
  AP3D1	95.00	0	NM_001261826.3/ interpretable range CS1>95%
  BLOC1S3	95.00	0	NM_212550.5/ interpretable range CS1>95%
  BLOC1S5	95.00	0	NM_201280.3/ interpretable range CS1>95%
  BLOC1S6	95.00	0	NM_012388.4/ interpretable range CS1>95%
  COPA	95.00	0	NM_004371.4/ interpretable range CS1>95%
  CSF2RA	95.00	0	NM_006140.6/ interpretable range CS1>95%
  CSF2RB	95.00	0	NM_000395.3/ interpretable range CS1>95%
  DTNBP1	95.00	0	NM_032122.5/ interpretable range CS1>95%
  FLNA	95.00	0	NM_001456.4/ interpretable range CS1>95%
  FOXF1	95.00	0	NM_001451.3/ interpretable range CS1>95%
  GATA2	95.00	0	NM_032638.5/ interpretable range CS1>95%
  HPS1	95.00	0	NM_000195.5/ interpretable range CS1>95%
  HPS3	95.00	0	NM_022081.6/ interpretable range CS1>95%
  HPS5	95.00	0	NM_181507.2/ interpretable range CS1>95%
  HPS6	95.00	0	NM_024747.6/ interpretable range CS1>95%
  MARS1	95.00	0	NM_004990.4/ interpretable range CS1>95%
  NKX2-1	95.00	0	NM_001079668.3/ interpretable range CS1>95%
  SFTPA1	95.00	0	NM_005411.5/ interpretable range CS1>95%
  SFTPA2	95.00	0	NM_001098668.4/ interpretable range CS1>95%
  SFTPB	95.00	0	NM_198843.3/ interpretable range CS1>95%
  SFTPC	95.00	0	NM_003018.4/ interpretable range CS1>95%
  STING1	95.00	0	NM_198282.4/ interpretable range CS1>95%
  TBX4	95.00	0	NM_018488.3/ interpretable range CS1>95%
  TERC	95.00	0	NR_001566.1/ interpretable range CS1>95%
  TERT	95.00	0	NM_198253.3/ interpretable range CS1>95%

• epidermal nevus syndrome (26 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AKT1	0.00	0	Only hotspots in the gene
  ALK	0.00	0	Only hotspots in the gene
  BRAF	0.00	0	Only hotspots in the gene
  CDKN2A	0.00	0	Only hotspots in the gene
  CTNNB1	0.00	0	Only hotspots in the gene
  DDR2	0.00	0	Only hotspots in the gene
  EGFR	0.00	0	Only hotspots in the gene
  ERBB2	0.00	0	Only hotspots in the gene
  ERBB4	0.00	0	Only hotspots in the gene
  FGFR2	0.00	0	Only hotspots in the gene
  FGFR3	0.00	0	Only hotspots in the gene
  H3-3A	0.00	0	Only hotspots in the gene
  H3C2	0.00	0	Only hotspots in the gene
  HRAS	0.00	0	Only hotspots in the gene
  IDH1	0.00	0	Only hotspots in the gene
  IDH2	0.00	0	Only hotspots in the gene
  KIT	0.00	0	Only hotspots in the gene
  KRAS	0.00	0	Only hotspots in the gene
  MAP2K1	0.00	0	Only hotspots in the gene
  MET	0.00	0	Only hotspots in the gene
  NRAS	0.00	0	Only hotspots in the gene
  PDGFRA	0.00	0	Only hotspots in the gene
  PIK3CA	0.00	0	Only hotspots in the gene
  PIK3R1	0.00	0	Only hotspots in the gene
  PTEN	0.00	0	Only hotspots in the gene
  STK11	0.00	0	Only hotspots in the gene

• keratinopathic ichthyosis (3 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  KRT1	95.00	0	interpretable range CS1>95%
  KRT2	95.00	0	interpretable range CS1>95%
  KRT10	95.00	0	interpretable range CS1>95%