Belgian Genetic Tests database- Laboratories
- Centrum Medische Genetica - UZ Antwerpen
Centrum Medische Genetica - UZ Antwerpen
| Name of the laboratory: |
Centrum Medische Genetica - UZ Antwerpen
|
| Abbreviation: |
UZA
|
| Institute name: |
University Hospital of Antwerp UZA
|
| Abbreviation institute: |
UZA
|
| RIZIV number: |
81199094-996
|
| Address: |
Prins Boudewijnlaan, 43 |
| Telephone: | |
| Fax: | |
| E-mail: |
medische.genetica@uza.be
|
| URL: | |
| EQA: |
2016
DNA Sequencing – NGS (vGermline)
EMQN
2017
DNA Sequencing – NGS (vGermline)
EMQN
2018
DNA Sequencing – NGS (vGermline)
EMQN
2019
DNA Sequencing – NGS (vGermline)
EMQN
2020
DNA Sequencing – NGS (vGermline)
EMQN
2021
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
2020
DNA Sequencing - Sanger
EMQN
2021
DNA Sequencing - Sanger
EMQN
2015
Postnatal constitutional CNV detection (array)
EMQN
2016
Postnatal constitutional CNV detection (array)
EMQN
2017
Postnatal constitutional CNV detection (array)
EMQN
2018
Postnatal constitutional CNV detection (array)
EMQN
2019
Postnatal constitutional CNV detection (array)
EMQN
2020
Postnatal constitutional CNV detection
EMQN
2021
Postnatal constitutional CNV detection
EMQN
2015
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2016
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2017
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2018
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2019
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2020
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2021
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2015
Blood -postnatal
GenQA (Genomics Quality Assessment)
2016
Blood -postnatal
GenQA (Genomics Quality Assessment)
2017
Blood -postnatal
GenQA (Genomics Quality Assessment)
2018
Blood -postnatal
GenQA (Genomics Quality Assessment)
2019
Blood -postnatal
GenQA (Genomics Quality Assessment)
2020
Blood postnatal
GenQA (Genomics Quality Assessment)
2021
Recurrent miscarriage karyotyping
GenQA (Genomics Quality Assessment)
2018
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2019
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2020
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2021
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2021
Rapid prenatal testing for common aneuploidies
GenQA (Genomics Quality Assessment)
|
| Created: |
27 Jul 2018 - 13:26
|
| Changed: |
21 Jun 2022 - 11:22
|
- Achondrogenesis type 2 / Hypochondrogenesis / Platyspondylic dysplasia, Torrance type / Stickler syndrome type 1 / Czech dysplasia/ Kniest dysplasia
- Achondroplasia (hot spot mutation - p.Gly380)
- Adams-Oliver syndrome (gene panel)
- Adrenogenital syndrome
- Amyloidosis, cardiac (full screening of the 4 exons for TTR)
- Aneurysm, Thoracic Aortic, familial (gene panel)
- Angelman / Prader Willi Syndrome
- Angelman syndrome
- Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
- Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel)
- Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
- Breast and Ovarian Cancer, hereditary, HBOC, Familial (13 genes)
- Breast cancer, hereditary (CHEK2) (hot spot mutation - c.1100delC)
- CHARGE syndrome
- Canavan disease (hot spot mutations - p.Glu285Ala, p.Tyr231*)
- Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel)
- Carnitine Palmitoyl transferase type II
- Cerebral palsy (gene panel)
- Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
- Charcot-Marie-Tooth, X-linked
- Clouston syndrome
- Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
- Craniosynostosis syndromes (Apert, Crouzon)
- Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
- Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (50 hot spot mutations)
- Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene)
- Cystic Fibrosis, newborn screening (12 hot spot mutations; CFTR)
- Deafness, autosomal dominant 6/14 / Wolfram syndrome
- Deafness, autosomal recessive 1A
- Dementia, young onset (gene panel)
- Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
- Diabetes neonatal / Maturity onset Diabete of the Young (MODY) (gene panel)
- Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
- Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
- Dravet syndrome / Severe myoclonic epilepsy of infancy / Generalized epilepsy with febrile seizures plus
- Dysautonomia, familial (FD) (hot spot mutation - c.2204+6T>C)
- Ectodermal dysplasia
- Epilepsy (gene panel)
- Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
- Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion
- Hearing loss (deafness), (gene panel)
- Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
- Hearing loss, STRC gene
- Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
- Hereditary Spastic Paraplegia (gene panel)
- Huntington disease - CAG repeat expansion
- Hypercholesterolemia, Familial (gene panel)
- Hyperinsulinism (gene panel)
- Hypochondroplasia (full sequencing)
- Hypochondroplasia (hot spot mutation - p.Asn540Lys)
- Hypophosphatemic rickets
- Intellectual disability (gene panel)
- Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
- Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
- Leri-Weill dyschondrosteosis / SHOX-related short stature
- Maturity onset Diabete of the Young (MODY), type 5 / Renal cysts and diabetes syndrome (gene panel)
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
- Multiple endocrine neoplasia, type 1
- Multiple osteochondromas (2 genes)
- Myopathy (gene panel)
- Myotonic dystrophy type 2 - CCTG repeat expansion
- Obesity (gene panel)
- Pendred syndrome
- Peripheral neuropathy (gene panel)
- Perrault syndrome (gene panel)
- Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel)
- Progressive external ophthalmoplegia
- Progressive external ophthalmoplegia/ Alpers syndrome/ Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome / Mitochondrial neurogastrointestinal encephalomyopathy
- Short stature/ Growth retardation/ (gene panel)
- Skeletal dysplasia (gene panel)
- Smith Lemli Opitz
- Somatic analysis of the BRCA genes in the context of ovarian cancer treatment (2 genes)
- Spastic paraplegia-4
- Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
- Spinocerebellar ataxia (SCA) type 17 - CAG/CAA repeat expansion
- Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion
- Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion
- Steinert myotonic dystrophy - CTG repeat expansion
- Stickler syndrome (gene panel)
- Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
- Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
- Treacher Collins (3 genes)
- Uniparental Disomy
- Usher syndrome (gene panel)
- Vitamin D resistent rickets
- Von Willebrand disease
- Waardenburg syndrome (gene panel)
- 17q11 microdeletion syndrome
- 3M syndrome
- 5-fluorouracil toxicity
- 9q33.3q34.11 microdeletion syndrome
- Aarskog-Scott syndrome
- Achondrogenesis type 2
- Achondroplasia
- Acromesomelic dysplasia, Maroteaux type
- Action myoclonus-renal failure syndrome
- Adams-Oliver syndrome
- Alpers-Huttenlocher syndrome
- Angelman syndrome due to a point mutation
- 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
- Apert syndrome
- Arterial tortuosity syndrome
- Ataxia with vitamin E deficiency
- Atypical Rett syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2D
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant Charcot-Marie-Tooth disease type 2L
- Autosomal dominant Charcot-Marie-Tooth disease type 2N
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant cutis laxa
- Autosomal dominant epilepsy with auditory features
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Autosomal dominant hyperinsulinism due to SUR1 deficiency
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant non-syndromic intellectual disability
- Autosomal dominant non-syndromic sensorineural deafness type DFNA
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal dominant spastic paraplegia type 10
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 31
- Autosomal dominant spastic paraplegia type 4
- Autosomal dominant spastic paraplegia type 73
- Autosomal dominant spastic paraplegia type 8
- Autosomal dominant spastic paraplegia type 9A
- Autosomal dominant spastic paraplegia type 9B
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive Robinow syndrome
- Autosomal recessive Stickler syndrome
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Autosomal recessive hyperinsulinism due to SUR1 deficiency
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- Autosomal recessive non-syndromic intellectual disability
- Autosomal recessive non-syndromic sensorineural deafness type DFNB
- Autosomal recessive primary microcephaly
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 15
- Autosomal recessive spastic paraplegia type 18
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 28
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 39
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 48
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 62
- Autosomal recessive spastic paraplegia type 76
- Autosomal recessive spastic paraplegia type 77
- Autosomal recessive spastic paraplegia type 78
- Autosomal recessive spastic paraplegia type 9B
- Autosomal spastic paraplegia type 30
- Autosomal spastic paraplegia type 58
- Autosomal spastic paraplegia type 72
- Baraitser-Winter cerebrofrontofacial syndrome
- Becker muscular dystrophy
- Benign familial infantile epilepsy
- Benign familial neonatal epilepsy
- Benign familial neonatal-infantile seizures
- Bilateral generalized polymicrogyria
- CDKL5-deficiency disorder
- CHARGE syndrome
- CLN1 disease
- CLN10 disease
- CLN2 disease
- CLN3 disease
- CLN4A disease
- CLN5 disease
- CLN6 disease
- CLN7 disease
- CLN8 disease
- CNTNAP2-related developmental and epileptic encephalopathy
- Cardiac-valvular Ehlers-Danlos syndrome
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Catecholaminergic polymorphic ventricular tachycardia
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Childhood absence epilepsy
- Cholesteryl ester storage disease
- Christianson syndrome
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
- Classical Ehlers-Danlos syndrome
- Coffin-Siris syndrome
- Congenital bilateral absence of vas deferens
- Continuous spikes and waves during sleep
- Cornelia de Lange syndrome
- Corpus callosum agenesis-abnormal genitalia syndrome
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- Crouzon syndrome
- Cystic fibrosis
- DEND syndrome
- DNA2-related mitochondrial DNA deletion syndrome
- Dejerine-Sottas syndrome
- Dentatorubral pallidoluysian atrophy
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 5
- Dravet syndrome
- Duchenne muscular dystrophy
- EAST syndrome
- Ear-patella-short stature syndrome
- Early infantile epileptic encephalopathy
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Epileptic encephalopathy with global cerebral demyelination
- FOXG1 syndrome
- Familial atrial fibrillation
- Familial bicuspid aortic valve
- Familial dysautonomia
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial focal epilepsy with variable foci
- Familial infantile myoclonic epilepsy
- Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
- Familial isolated dilated cardiomyopathy
- Familial isolated restrictive cardiomyopathy
- Familial osteochondritis dissecans
- Familial porencephaly
- Familial progressive cardiac conduction defect
- Familial schizencephaly
- Familial short QT syndrome
- Familial sick sinus syndrome
- Familial thoracic aortic aneurysm and aortic dissection
- Fanconi anemia
- Female restricted epilepsy with intellectual disability
- Floating-Harbor syndrome
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
- Fragile X syndrome
- Fragile X-associated tremor/ataxia syndrome
- Generalized epilepsy with febrile seizures-plus
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- Growth delay due to insulin-like growth factor I resistance
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hemochromatosis type 1 (NON RARE IN EUROPE)
- Hereditary ATTR amyloidosis
- Hereditary breast and ovarian cancer syndrome
- Hereditary breast cancer
- Hereditary chronic pancreatitis
- Hereditary neuropathy with liability to pressure palsies
- Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)
- Hidrotic ectodermal dysplasia
- Homozygous familial hypercholesterolemia
- Huntington disease
- Hyperekplexia-epilepsy syndrome
- Hyperinsulinism due to HNF1A deficiency
- Hyperinsulinism due to HNF4A deficiency
- Hyperinsulinism due to INSR deficiency
- Hyperinsulinism due to glucokinase deficiency
- Hypocalcemic vitamin D-resistant rickets
- Hypochondrogenesis
- Hypochondroplasia
- Idiopathic bronchiectasis
- Idiopathic pulmonary fibrosis
- Idiopathic ventricular fibrillation, non Brugada type
- Infantile convulsions and choreoathetosis
- Infantile epileptic-dyskinetic encephalopathy
- Infantile spasms syndrome
- Insulin-resistance syndrome type A
- Intermediate DEND syndrome
- Isolated focal cortical dysplasia type IIa
- Isolated focal cortical dysplasia type IIb
- Isolated focal cortical dysplasia type Ia
- Isolated growth hormone deficiency type IB
- Isolated permanent neonatal diabetes mellitus
- Juvenile myoclonic epilepsy
- KCNQ2-related epileptic encephalopathy
- KDM5C-related syndromic X-linked intellectual disability
- Kennedy disease
- Kleefstra syndrome due to 9q34 microdeletion
- Kniest dysplasia
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Lafora disease
- Landau-Kleffner syndrome
- Langer mesomelic dysplasia
- Laron syndrome
- Laron syndrome with immunodeficiency
- Left ventricular noncompaction
- Lennox-Gastaut syndrome
- Leprechaunism
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Lissencephaly syndrome, Norman-Roberts type
- Lissencephaly type 1 due to doublecortin gene mutation
- Loeys-Dietz syndrome
- Léri-Weill dyschondrosteosis
- MELAS
- MODY
- Machado-Joseph disease type 3
- Malignant migrating focal seizures of infancy
- Marfan syndrome type 1
- Melnick-Needles syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic primordial dwarfism, Dauber type
- Mild Canavan disease
- Miller-Dieker syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Muenke syndrome
- Mulibrey nanism
- Multiple endocrine neoplasia type 1
- Multiple epiphyseal dysplasia, Beighton type
- Multiple osteochondromas
- Muscular dystrophy, Selcen type
- Myoclonic-astatic epilepsy
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Neuropathy with hearing impairment
- Non-specific early-onset epileptic encephalopathy
- Obesity due to SIM1 deficiency
- Obesity due to congenital leptin deficiency
- Obesity due to leptin receptor gene deficiency
- Obesity due to melanocortin 4 receptor deficiency
- Obesity due to pro-opiomelanocortin deficiency
- Obesity due to prohormone convertase I deficiency
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- PEHO syndrome
- Partial chromosome Y deletion
- Partington syndrome
- Pendred syndrome
- Peripheral resistance to thyroid hormones
- Periventricular nodular heterotopia
- Perrault syndrome
- Pfeiffer syndrome type 1
- Pitt-Hopkins syndrome
- Pitt-Hopkins-like syndrome
- Platyspondylic dysplasia, Torrance type
- 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 2
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- Progressive epilepsy-intellectual disability syndrome, Finnish type
- Progressive myoclonic epilepsy type 1
- Progressive myoclonic epilepsy type 3
- Progressive myoclonic epilepsy type 5
- Progressive myoclonic epilepsy type 6
- Progressive myoclonic epilepsy type 7
- Progressive myoclonic epilepsy type 8
- Progressive myoclonic epilepsy with dystonia
- Proteus syndrome
- Proximal myotonic myopathy
- Proximal spinal muscular atrophy type 1
- Proximal spinal muscular atrophy type 2
- Proximal spinal muscular atrophy type 3
- Proximal spinal muscular atrophy type 4
- Rabson-Mendenhall syndrome
- Rett syndrome
- Rolandic epilepsy
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Rolandic epilepsy-speech dyspraxia syndrome
- SHOX-related short stature
- SYNGAP1-related developmental and epileptic encephalopathy
- Saethre-Chotzen syndrome
- Seckel syndrome
- Semilobar holoprosencephaly
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Severe Canavan disease
- Severe intellectual disability and progressive spastic paraplegia
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- Severe neonatal-onset encephalopathy with microcephaly
- Severe neurodegenerative syndrome with lipodystrophy
- Short stature due to growth hormone qualitative anomaly
- Short stature due to partial GHR deficiency
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- Shprintzen-Goldberg syndrome
- Smith-Lemli-Opitz syndrome
- Spastic paraplegia type 2
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 10
- Spinocerebellar ataxia type 12
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia type 8
- Spinocerebellar ataxia with axonal neuropathy type 2
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepiphyseal dysplasia congenita
- Spondyloepiphyseal dysplasia with metatarsal shortening
- Spondyloepiphyseal dysplasia, Kimberley type
- Steinert myotonic dystrophy
- Stickler syndrome type 1
- Stickler syndrome type 2
- Stiff skin syndrome
- 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
- Tall stature-scoliosis-macrodactyly of the great toes syndrome
- Tay-Sachs disease, B variant, adult form
- Tay-Sachs disease, B variant, infantile form
- Tay-Sachs disease, B variant, juvenile form
- Tay-Sachs disease, B1 variant
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Thiamine-responsive encephalopathy
- Transient neonatal diabetes mellitus
- Treacher-Collins syndrome
- Tuberous sclerosis complex
- Usher syndrome type 1
- Usher syndrome type 2
- Usher syndrome type 3
- Vascular Ehlers-Danlos syndrome
- 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
- Waardenburg syndrome type 1
- Waardenburg syndrome type 2
- Waardenburg syndrome type 3
- Waardenburg-Shah syndrome
- Walker-Warburg syndrome
- Wiedemann-Steiner syndrome
- Wilson disease
- Wolfram syndrome
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 4
- X-linked Ehlers-Danlos syndrome
- X-linked complicated spastic paraplegia type 1
- X-linked epilepsy-learning disabilities-behavior disorders syndrome
- X-linked hypophosphatemia
- X-linked lissencephaly with abnormal genitalia
- X-linked non-syndromic intellectual disability
- X-linked spasticity-intellectual disability-epilepsy syndrome
-
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ASPA HEXA ELP1 FANCC -
Adams-Oliver (6 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ARHGAP31 DOCK6 RBPJ NOTCH1 DLL4 EOGT -
Breast/ ovarian cancer (12 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 BRCA2 PALB2 TP53 CHEK2 ATM BRIP1 RAD51C RAD51D MLH1 MSH2 MSH6 -
CHARGE (2 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CHD7 SEMA3E -
Cardiomyopathy (59 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 ACTC1 ACTN2 ANKRD1 BAG3 CAV3 CRYAB CSRP3 CTNNA3 DES DSC2 DSG2 DSP EMD FHL1 GLA JUP LAMA4 LAMP2 LDB3 LMNA MIB1 MYBPC3 MYH6 MYH7 MYL2 NEXN PKP2 PLN PRDM16 PRKAG2 RBM20 SCN5A SGCD TAFAZZIN TCAP TGFB3 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL RYR2 FLNC FHL2 NEBL RAF1 SDHA SYNE1 CALR3 JPH2 ALPK3 MYL3 MYOZ2 MYPN PPA2 -
Cerebral palsy (212 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACOX1 ADA2 ADCY5 ADD3 AFG3L2 AHI1 AIMP1 AKT3 ALDH3A2 ALDH5A1 AMT AP4B1 AP4E1 AP4M1 AP4S1 ARG1 ARSA ARX ASPA ATL1 ATM ATP7B AUTS2 BCKDHA BCKDHB BSCL2 BTD MTRFR CDKL5 CEP290 CLN3 COL4A1 COL4A2 COQ8A CYP2U1 CYP7B1 DARS1 DBT DDC DDHD1 DDHD2 DLD DYRK1A EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELP2 ERLIN2 F10 FAM126A FH FOXC1 FOXG1 GAD1 GALC GALT GAMT GBA GCH1 GCSH GFAP GJC2 GLB1 GLDC GLRA1 GM2A GPHN GRID2 GRIN1 GRIN2B HESX1 HEXA HIKESHI HPRT1 HSPD1 IFIH1 ISG15 ITPR1 KANK1 KCNC3 KDM5C KIF1A KIF1C KIF5A L1CAM L2HGDH LAMA2 MARS2 MCPH1 MECP2 MOCS1 MOCS2 MTHFR MTOR MTPAP MTTP MMUT NIPA1 NKX2-1 NKX6-2 NOTCH3 NPC1 NPC2 NPHP1 PAFAH1B1 PAK3 PANK2 PCCA PCCB PDHA1 PDHX PHYH PIK3CA PLA2G6 PLAA PLP1 PMM2 PNP POLG POLR1C POLR3A POLR3B PPT1 PYCR2 QDPR RARS1 REEP1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RTN2 SACS SAMHD1 SCN8A SEPSECS SHH SIX3 SLC16A2 SLC17A5 SLC19A3 SLC2A1 SLC5A6 SLC6A1 SLC6A5 SPAST SPG11 SPG7 SPR SPTBN2 SUOX SURF1 TECPR2 TGIF1 TH TPP1 TRAPPC12 TREX1 TSEN15 TSEN2 TSEN54 TTPA TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 UBE3A USP18 VPS11 VPS37A VPS53 ZFYVE26 ZIC2 ACTA2 ALS2 AMPD2 ATAD3A CACNA1A CTNNB1 DGUOK EPHB4 FBXO31 FLVCR2 GNAO1 GNB1 JAM3 KCNQ2 KIDINS220 NT5C2 PCYT2 RASA1 SELENOI ST3GAL5 STAT2 STING1 STXBP1 TAF2 YY1AP1 ZBTB18 ZC4H2 -
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) (7 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments GCK HNF1A HNF1B HNF4A INS ABCC8 KCNJ11 -
Familial Hypercholesterolemia panel (8 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LDLR APOB APOE PCSK9 LDLRAP1 LIPA ABCG5 ABCG8 -
Familial Thoracic Aortic Aneurysm (34 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABL1 ACTA2 ARIH1 BGN COL3A1 EFEMP2 ELN EMILIN1 FBN1 FBN2 FLNA FOXE3 HCN4 LMOD1 LOX LTBP3 MAT2A MFAP5 MYH11 MYLK NOTCH1 PLOD1 PRKG1 SKI SLC2A10 SMAD2 SMAD3 SMAD4 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2 PMEPA1 -
Growth retardation/short stature (52 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN ANKRD11 ARID1A ATR CCDC8 CDC45 CDC6 CDT1 CENPJ CEP152 CEP63 CHD4 CUL7 DNA2 FGD1 FGFR3 FLNA GH1 GHR GHRHR GHSR GMNN IGF1 IGF1R KMT2A NIN NPPC NPR2 NPR3 OBSL1 ORC1 ORC4 ORC6 PCNT POC1A PTPN11 RBBP8 ROR2 SHOX SRCAP STAT5B THRA TRAIP TRIM37 WNT5A IGF2 IGFALS IKBKB IL2RG PAPPA2 PIK3R1 STAT3 -
Hearing loss (deafness) non-syndromic (> 100 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTG1 ADCY1 BDP1 BSND TPRN CABP2 CACNA1D CCDC50 CD164 CDC14A CDH23 CEACAM16 CIB2 CLDN14 CLIC5 COCH COL11A2 COL4A6 DCDC2 GSDME WHRN PJVK DIABLO DIAPH1 DIAPH3 DMXL2 ELMOD3 EPS8 EPS8L2 ESRP1 ESRRB EYA4 RIPOR2 FOXI1 GIPC3 GJB2 GJB3 GJB6 GPSM2 GRHL2 GRXCR1 GRXCR2 HECTD3 HGF HOMER2 IFNLR1 KARS1 KCNQ4 KITLG LHFPL5 LOXHD1 LRTOMT MCM2 MET MIR96 MPZL2 MSRB3 MTAP MT-RNR1 MT-TL1 MT-TS1 MYH14 MYH9 MYO15A MYO3A MYO6 MYO7A NARS2 NLRP3 OSBPL2 OTOA OTOF OTOG OTOGL P2RX2 PCDH15 PDE1C PNPT1 POU3F4 POU4F3 PPIP5K2 PRPS1 PTPRQ RDX ROR1 S1PR2 SERPINB6 SIX1 SLC17A8 SLC22A4 SLC26A4 SLC26A5 SLC7A8 SMPX SPATC1L SSBP1 SYNE4 TBC1D24 TECTA THRAP3 TJP2 TMC1 TMEM132E TMIE TMPRSS3 TMTC2 TNC TRIOBP TSPEAR USH1C WBP2 WDR92 WFS1 ILDR1 STRC USH2A -
Hereditary Spastic Paraplegia (89 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 AFG3L2 ALDH18A1 AP4B1 AP5Z1 ARSA ATL1 ATM ATP13A2 ATP1A3 ATP7B B4GALNT1 BSCL2 CAPN1 CPT1C CYP27A1 CYP7B1 DDHD1 DNMT1 ERLIN1 ERLIN2 FA2H FARS2 GALC GBA2 HACE1 INPP5E KCNA2 KIF1A KIF1C KIF5A L1CAM MTTP NPC1 OPA1 PEX7 PHYH PLA2G6 PLP1 PNPLA6 POLR3A REEP1 REEP2 RTN2 SACS SETX SIL1 SPAST SPG11 SPG21 SPG7 SPTBN2 STUB1 SYNE1 TTPA UBAP1 VPS13D WASHC5 ZFYVE26 AP4M1 AP4S1 C19ORF12 CACNA1A CACNA1G DDHD2 ELOVL4 ELOVL5 FAT2 FGF14 GRID2 GRM1 HPDL ITPR1 KCNC3 KCND3 MAG MMACHC NIPA1 NT5C2 PCYT2 POLG PRKCG PUM1 SELENOI TGM6 TMEM240 TTBK2 UCHL1 -
Hyperinsulinism (5 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments GCK ABCC8 KCNJ11 HNF4A INS -
Intellectual disability (>1360 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 -
MODY (7 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments GCK HNF1A HNF4A HNF1B INS ABCC8 KCNJ11 -
Multiple osteochondromas (2 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments EXT1 EXT2 -
Myopathy (179 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 ACAD9 ACADM ACADS ACADVL ACTA1 ADSS1 AGK AGL AGRN ALDOA ALG14 ALG2 ANO5 ATP2A1 B3GALNT2 B3GNT2 BAG3 BIN1 BVES CAPN3 CASQ1 CAV3 CAVIN1 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCN1 CNBP COL12A1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRPPA CRYAB DAG1 DCST2 DES DMD DMPK DNAJB6 DNM2 DNMT3B DOK7 DPAGT1 DPM2 DPM3 DYSF EMD ENO3 ETFA ETFDH FDX2 FHL1 FKRP FKTN FLNC GAA GBE1 GFER GFPT1 GMPPB GNE GYG1 GYS1 HADH HADHA HADHB HNRNPA1 HNRNPA2B1 HNRNPDL ISCU ITGA7 ITGA9 KBTBD13 KCNJ2 KLHL40 KLHL41 KLHL9 LAMA2 LAMB2 LAMP2 LARGE1 LDB3 LDHA LIMS2 LMNA LPIN1 LRP4 MAP3K20 MATR3 MEGF10 MTM1 MUSK MYBPC3 MYF6 MYH14 MYH2 MYH3 MYH7 MYL1 MYL2 MYOT MYPN NEB OPA1 ORAI1 PABPN1 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKB PLEC PNPLA2 POGLUT1 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PRKAG2 PYGM RAPSN RBCK1 RXYLT1 RYR1 SCN4A SELENON SGCA SGCB SGCD SGCG SIL1 SLC22A5 SLC25A20 SLC25A4 SMCHD1 SPEG SQSTM1 STAC3 STIM1 SYNE1 SYNE2 SYT2 TCAP TIA1 TK2 TMEM126B TMEM43 TNNI2 TNNT1 TNNT3 TNPO3 TNXB TOP3A TOR1AIP1 TPI1 TPM2 TPM3 TRAPPC11 TRDN TRIM32 TRMT5 TTN TWNK VCP VMA21 -
Neuropathy (>110 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 ABHD12 ADPRS AIFM1 ARHGEF10 ATL1 ATP1A1 ATP7A BAG3 BICD2 BSCL2 CCT5 CLTCL1 COA7 COX6A1 CTDP1 DCTN1 DGAT2 DHTKD1 DNAJB2 DNM2 DNMT1 DRP2 DST DYNC1H1 EGR2 ELP1 FBLN5 FBXO38 FGD4 FIG4 GAN GARS1 GBF1 GDAP1 GJB1 GJB3 GNB4 HARS1 HINT1 HK1 HNRNPA1 HSPB1 HSPB3 HSPB8 IFRD1 IGHMBP2 INF2 ITPR3 KARS1 KIF1A KIF1B KIF5A LAS1L LITAF LMNA LRSAM1 MARS1 MED25 MFN2 MME MORC2 MPZ MTMR2 NAGLU NARS1 NDRG1 NEFL NGF NTRK1 PDK3 PIEZO2 PLD3 PLEKHG5 PMP2 PMP22 POLG PRDM12 PRPS1 PRX RAB7A REEP1 RETREG1 SBF1 SBF2 SCN11A SCN9A SEPTIN9 SETX SH3TC2 SIGMAR1 SLC12A6 SLC5A7 SORD SOX10 SPTAN1 SPTLC1 SPTLC2 SPTLC3 SURF1 SYT2 TBCE TBCK TFG TRIM2 TRPV4 TTR TUBB3 VAPB VCP WARS1 WNK1 YARS1 ZFHX2 -
Obesitas (12 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 BDNF LEP LEPR MC3R MC4R NTRK2 NR0B2 PCSK1 POMC SIM1 UCP3 -
Ovarian cancer / BRCA1/2 somatic
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 0 BRCA2 100.00 0 -
Perrault syndrome (5 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments TWNK CLPP HARS2 HSD17B4 LARS2 -
Primary Electrical disorders/Brugada syndrome (60 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB4 ABCC9 ACTN2 AKAP9 ANK2 CACNA1C CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CTNNA3 DES DPP6 DSC2 DSG2 DSP GJA1 GJA5 GNB5 GPD1L HCN4 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNK17 KCNQ1 LMNA NKX2-5 NOS1AP NPPA PKP2 PLN PPA2 PRKAG2 RANGRF RRAD RYR2 SCN1B SCN2B SCN3B SCN4B SCN5A SCN10A SLMAP SNTA1 TGFB3 TMEM43 TRDN TRPM4 -
Rare epilepsy with developmental delay (> 240 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABAT 100.00 0 No comment ACTB 99.92 0 No comment ACTG1 100.00 0 No comment ACTL6B 99.16 0 No comment ACY1 99.96 0 No comment ADAR 99.99 0 No comment ADPRS 91.11 0 No comment ADSL 99.73 0 No comment AFG3L2 95.23 0 No comment ALDH7A1 99.83 0 No comment ALG11 100.00 0 No comment ALG13 95.29 0 No comment AMT 100.00 0 No comment ANKRD11 99.99 0 No comment AP3B2 97.74 0 No comment AP4S1 87.73 0 No comment ARFGEF2 99.81 0 No comment ARHGEF9 99.89 0 No comment ARID1B 87.88 0 No comment ARV1 89.03 0 No comment ARX 59.32 0 No comment ASXL3 99.74 0 No comment ATN1 99.12 0 No comment ATP1A2 99.88 0 No comment ATP1A3 99.81 0 No comment BRAT1 99.96 0 No comment BSCL2 100.00 0 No comment CACNA1A 92.18 0 No comment CACNA1B 93.35 0 No comment CACNA1E 99.99 0 No comment CACNA1G 99.63 0 No comment CACNA2D2 94.11 0 No comment CASK 99.78 0 No comment CDK13 88.47 0 No comment CDKL5 97.71 0 No comment CERS1 76.68 0 No comment CERT1 99.89 0 No comment CHD2 99.95 0 No comment CLCN4 99.94 0 No comment CLN3 99.98 0 No comment CLN5 97.84 0 No comment CLN6 91.00 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CNKSR2 99.28 0 No comment CNTNAP2 99.99 0 No comment COL18A1 96.27 0 No comment COL4A1 98.54 0 No comment CPLX1 99.70 0 No comment CPT2 97.07 0 No comment CSNK2B 100.00 0 No comment CSTB 92.54 0 No comment CTSD 97.90 0 No comment CUX2 98.72 0 No comment CYFIP2 99.99 0 No comment DCX 99.86 0 No comment DDX3X 99.66 0 No comment DENND5A 98.99 0 No comment DEPDC5 99.97 0 No comment DHDDS 99.77 0 No comment DMXL2 99.86 0 No comment DNM1 94.54 0 No comment DNM1L 99.97 0 No comment DOCK7 99.35 0 No comment DYRK1A 100.00 0 No comment EEF1A2 91.59 0 No comment EHMT1 98.44 0 No comment EPM2A 81.75 0 No comment FARS2 99.99 0 No comment FGF12 100.00 0 No comment FLNA 99.50 0 No comment FMN2 92.71 0 No comment FMR1 99.71 0 No comment FOLR1 100.00 0 No comment FOXG1 75.13 0 No comment FRRS1L 69.11 0 No comment FZR1 100.00 0 No comment GABBR2 95.14 0 No comment GABRA1 100.00 0 No comment GABRA2 100.00 0 No comment GABRB1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 98.87 0 No comment GABRG2 92.15 0 No comment GAD1 100.00 0 No comment GAMT 95.00 0 No comment GBA 100.00 0 No comment GLDC 96.06 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNB5 99.70 0 No comment GOSR2 99.87 0 No comment GPHN 100.00 0 No comment GRIA2 100.00 0 No comment GRIA3 97.93 0 No comment GRIK2 99.97 0 No comment GRIN1 99.74 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 61.45 0 No comment HCN1 93.52 0 No comment HECW2 99.99 0 No comment HNRNPU 95.95 0 No comment HUWE1 99.62 0 No comment IER3IP1 99.80 0 No comment IFIH1 99.99 0 No comment IQSEC2 91.31 0 No comment IRF2BPL 91.18 0 No comment ITPA 100.00 0 No comment KANSL1 99.98 0 No comment KARS1 99.99 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNB1 99.01 0 No comment KCNC1 99.52 0 No comment KCNH1 99.96 0 No comment KCNJ10 100.00 0 No comment KCNK4 96.68 0 No comment KCNMA1 99.92 0 No comment KCNQ2 98.57 0 No comment KCNQ3 95.56 0 No comment KCNQ5 94.69 0 No comment KCNT1 97.66 0 No comment KCNT2 100.00 0 No comment KCTD7 97.74 0 No comment KDM5C 99.69 0 No comment KIF1A 99.96 0 No comment KIF2A 99.83 0 No comment KIF5C 99.91 0 No comment KMT2E 99.89 0 No comment MAP1B 99.93 0 No comment MBD5 100.00 0 No comment MECP2 91.83 0 No comment MED13L 99.94 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MOCS1 97.59 0 No comment MOCS2 100.00 0 No comment MTOR 99.89 0 No comment NARS2 99.98 0 No comment NBEA 98.89 0 No comment NEU1 100.00 0 No comment NEXMIF 99.96 0 No comment NF1 99.55 0 No comment NF2 99.93 0 No comment NHLRC1 99.28 0 No comment NIPA1 84.21 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRXN1 98.90 0 No comment NTRK2 100.00 0 No comment NUS1 98.46 0 No comment OTUD6B 99.73 0 No comment PACS2 96.45 0 No comment PAFAH1B1 100.00 0 No comment PARS2 100.00 0 No comment PCDH19 99.80 0 No comment PHACTR1 97.55 0 No comment PIGA 99.89 0 No comment PIGN 99.84 0 No comment PIGQ 100.00 0 No comment PIGS 100.00 0 No comment PIGT 100.00 0 No comment PLCB1 99.97 0 No comment PLPBP 99.57 0 No comment PNKP 99.98 0 No comment PNPO 99.98 0 No comment POLG 99.86 0 No comment PPP2R5D 99.94 0 No comment PPP3CA 99.93 0 No comment PPT1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRRT2 100.00 0 No comment PTEN 92.28 0 No comment PURA 85.06 0 No comment QARS1 100.00 0 No comment RELN 99.97 0 No comment RHOBTB2 99.98 0 No comment RNASEH2A 99.99 0 No comment RNASEH2B 93.70 0 No comment RNASEH2C 95.34 0 No comment ROGDI 94.47 0 No comment RORA 97.11 0 No comment RORB 100.00 0 No comment RTN4IP1 100.00 0 No comment SAMHD1 100.00 0 No comment SCARB2 100.00 0 No comment SCN1A 99.91 0 No comment SCN1B 95.75 0 No comment SCN2A 100.00 0 No comment SCN3A 100.00 0 No comment SCN8A 99.95 0 No comment SERPINI1 99.98 0 No comment SETD2 99.95 0 No comment SIK1 99.98 0 No comment SLC12A5 99.55 0 No comment SLC13A5 99.89 0 No comment SLC19A3 100.00 0 No comment SLC1A2 99.99 0 No comment SLC25A12 100.00 0 No comment SLC25A22 99.88 0 No comment SLC2A1 99.27 0 No comment SLC35A2 99.82 0 No comment SLC35A3 99.97 0 No comment SLC6A1 99.93 0 No comment SLC6A8 91.78 0 No comment SLC9A6 94.23 0 No comment SMARCA2 97.46 0 No comment SMC1A 99.50 0 No comment SNAP25 100.00 0 No comment SPATA5 100.00 0 No comment SPTAN1 99.98 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 93.40 0 No comment STAG1 99.98 0 No comment STX1B 99.89 0 No comment STXBP1 100.00 0 No comment SYN1 75.34 0 No comment SYNGAP1 98.18 0 No comment SYNJ1 99.27 0 No comment SZT2 99.94 0 No comment TANC2 100.00 0 No comment TBC1D24 99.73 0 No comment TBCD 96.99 0 No comment TCF4 99.90 0 No comment TK2 85.99 0 No comment ACD 99.86 0 No comment TRAK1 99.99 0 No comment TRAPPC6B 100.00 0 No comment TREX1 100.00 0 No comment TRIT1 99.98 0 No comment TSC1 99.97 0 No comment TSC2 99.99 0 No comment TUBA1A 100.00 0 No comment TUBB2B 100.00 0 No comment UBA5 99.97 0 No comment UBE3A 99.97 0 No comment UFC1 99.91 0 No comment UGDH 99.96 0 No comment VARS1 100.00 0 No comment VARS2 100.00 0 No comment WDR26 99.78 0 No comment WDR45 99.67 0 No comment WWOX 100.00 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.11 0 No comment ZEB2 99.91 0 No comment ZNHIT3 74.73 0 No comment -
Skeletal dysplasia (433 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 99.89 0 No comment ALX3 81.82 0 No comment B3GALT6 53.64 0 No comment CDC73 99.96 0 No comment COL11A1 99.87 0 No comment COL9A2 99.91 0 No comment CTSK 100.00 0 No comment DDR2 99.97 0 No comment DHCR24 99.48 0 No comment DVL1 99.70 0 No comment FAM20B 100.00 0 No comment FUCA1 96.54 0 No comment GNAI3 99.97 0 No comment GNPAT 99.41 0 No comment GORAB 99.99 0 No comment HSPG2 99.38 0 No comment IARS2 99.34 0 No comment LBR 99.79 0 No comment LMNA 99.82 0 No comment NLRP3 99.84 0 No comment NOTCH2 99.99 0 No comment NRAS 99.83 0 No comment SLC25A15 100.00 0 No comment P3H1 97.17 0 No comment PIGV 100.00 0 No comment PLOD1 98.85 0 No comment RBM8A 100.00 0 No comment SF3B4 99.99 0 No comment HHAT 87.10 0 No comment SLC35D1 99.47 0 No comment TBCE 99.22 0 No comment TBX15 100.00 0 No comment TGFB2 99.98 0 No comment ZMPSTE24 99.99 0 No comment CHST3 99.60 0 No comment DNA2 99.94 0 No comment FGFR2 100.00 0 No comment KAT6B 100.00 0 No comment PAPSS2 99.05 0 No comment POLR3A 99.99 0 No comment SLC29A3 99.67 0 No comment SMC3 99.89 0 No comment TCTN3 100.00 0 No comment ALX4 98.63 0 No comment ANO5 100.00 0 No comment B3GAT3 94.57 0 No comment C2CD3 99.98 0 No comment CDKN1C 54.12 0 No comment CREB3L1 99.46 0 No comment CYP2R1 99.96 0 No comment DYNC2H1 99.85 0 No comment EED 100.00 0 No comment EXT2 100.00 0 No comment FAM111A 100.00 0 No comment FAR1 99.97 0 No comment FERMT3 99.98 0 No comment HRAS 100.00 0 No comment IFITM5 100.00 0 No comment INPPL1 96.15 0 No comment CORIN 99.08 0 No comment LRP5 98.04 0 No comment LTBP3 90.23 0 No comment MMP13 99.97 0 No comment PLCB3 99.69 0 No comment RASGRP2 99.98 0 No comment SERPINH1 99.95 0 No comment SLC39A13 100.00 0 No comment TCIRG1 99.81 0 No comment TMEM216 99.47 0 No comment ALX1 100.00 0 No comment ATP6V0A2 99.78 0 No comment CEP290 99.93 0 No comment COL2A1 99.93 0 No comment CYP27B1 99.99 0 No comment FGF23 100.00 0 No comment GDF3 99.99 0 No comment GNPTAB 99.99 0 No comment GNS 99.78 0 No comment IFT81 94.31 0 No comment LEMD3 99.18 0 No comment MGP 100.00 0 No comment PDE3A 99.86 0 No comment PEX5 99.80 0 No comment POLE 99.35 0 No comment POLR3B 99.77 0 No comment PTHLH 100.00 0 No comment PTPN11 99.63 0 No comment SP7 100.00 0 No comment TBX3 96.00 0 No comment TBX5 99.94 0 No comment TRPV4 99.94 0 No comment VDR 99.98 0 No comment VPS33A 100.00 0 No comment WNT1 93.71 0 No comment WNT10B 97.02 0 No comment FGF9 99.86 0 No comment GPC6 99.87 0 No comment KL 94.49 0 No comment POLR1D 99.79 0 No comment TGDS 99.98 0 No comment TNFSF11 92.51 0 No comment AKT1 100.00 0 No comment GSC 67.17 0 No comment IFT43 99.98 0 No comment KIAA0586 95.67 0 No comment LTBP2 99.15 0 No comment MMP14 99.96 0 No comment SRP54 100.00 0 No comment TGFB3 100.00 0 No comment TRIP11 100.00 0 No comment ACAN 98.59 0 No comment ADAMTS17 88.98 0 No comment CEP152 99.90 0 No comment CHST14 91.23 0 No comment CHSY1 90.40 0 No comment DLL4 100.00 0 No comment EFL1 100.00 0 No comment FBN1 99.99 0 No comment FMN1 98.98 0 No comment GREM1 100.00 0 No comment IDH2 91.74 0 No comment KIF7 93.03 0 No comment LRRK1 98.30 0 No comment MAP2K1 99.83 0 No comment MESP2 92.59 0 No comment PPIB 99.77 0 No comment SMAD3 99.84 0 No comment TCF12 100.00 0 No comment CDH3 99.99 0 No comment CDT1 86.20 0 No comment CLCN7 94.47 0 No comment COG4 100.00 0 No comment CREBBP 99.91 0 No comment DHODH 100.00 0 No comment GALNS 97.56 0 No comment GNPTG 93.83 0 No comment IFT140 99.46 0 No comment KIF22 99.96 0 No comment MMP2 99.64 0 No comment ORC6 99.76 0 No comment PAM16 99.79 0 No comment RPGRIP1L 97.08 0 No comment RSPRY1 100.00 0 No comment SALL1 99.99 0 No comment TBX6 99.96 0 No comment VAC14 99.95 0 No comment XYLT1 87.54 0 No comment BHLHA9 33.67 0 No comment CANT1 99.71 0 No comment CDC6 100.00 0 No comment COL1A1 99.14 0 No comment DLX3 99.32 0 No comment EFTUD2 99.97 0 No comment EIF4A3 99.96 0 No comment FKBP10 99.89 0 No comment FZD2 94.05 0 No comment HES7 73.20 0 No comment KCNJ2 100.00 0 No comment KIAA0753 99.93 0 No comment MEOX1 100.00 0 No comment MKS1 99.98 0 No comment MYH3 100.00 0 No comment NAGLU 83.94 0 No comment NF1 99.55 0 No comment NOG 97.28 0 No comment NXN 88.52 0 No comment P4HB 98.23 0 No comment PLEKHM1 100.00 0 No comment PRKAR1A 100.00 0 No comment PYCR1 99.89 0 No comment SERPINF1 99.98 0 No comment SGSH 98.08 0 No comment SMARCE1 99.93 0 No comment SOST 85.47 0 No comment SOX9 94.02 0 No comment SUZ12 94.61 0 No comment TBX4 93.25 0 No comment WNT3 99.97 0 No comment XYLT2 99.56 0 No comment DYM 99.96 0 No comment LPIN2 99.99 0 No comment RBBP8 99.92 0 No comment SMAD2 99.95 0 No comment SMAD4 100.00 0 No comment TNFRSF11A 93.69 0 No comment ACP5 100.00 0 No comment ADAMTS10 96.25 0 No comment APC2 81.13 0 No comment CCDC8 100.00 0 No comment COMP 95.73 0 No comment DLL3 70.41 0 No comment DOCK6 99.33 0 No comment ERF 99.52 0 No comment FUZ 99.97 0 No comment GPX4 80.82 0 No comment LONP1 96.60 0 No comment MAN2B1 99.85 0 No comment MEGF8 99.86 0 No comment NFIX 98.02 0 No comment SMARCA4 99.96 0 No comment TGFB1 96.92 0 No comment TYROBP 100.00 0 No comment ACVR1 100.00 0 No comment AGPS 96.06 0 No comment CKAP2L 99.99 0 No comment CRIPT 100.00 0 No comment DNMT3A 99.93 0 No comment DYNC2LI1 100.00 0 No comment EIF2AK3 93.20 0 No comment EXOC6B 99.77 0 No comment FN1 100.00 0 No comment GALNT3 100.00 0 No comment HAAO 100.00 0 No comment HDAC4 99.98 0 No comment HOXD13 79.39 0 No comment IDH1 100.00 0 No comment IFIH1 99.99 0 No comment IFT172 100.00 0 No comment IHH 95.41 0 No comment IL1RN 100.00 0 No comment KYNU 99.83 0 No comment MAP3K20 99.97 0 No comment MATN3 84.95 0 No comment MYCN 82.68 0 No comment NBAS 99.97 0 No comment NPPC 96.84 0 No comment OBSL1 92.70 0 No comment ORC4 99.80 0 No comment PAX3 100.00 0 No comment POLR1A 99.98 0 No comment SMARCAL1 99.97 0 No comment TRAF3IP1 99.21 0 No comment TTC21B 99.99 0 No comment WDR35 99.96 0 No comment WNT6 86.02 0 No comment BMP2 99.98 0 No comment COL9A3 95.51 0 No comment CTSA 100.00 0 No comment DDRGK1 99.55 0 No comment GDF5 99.89 0 No comment GNAS 98.02 0 No comment GZF1 100.00 0 No comment IFT52 99.90 0 No comment MAFB 93.44 0 No comment MMP9 99.22 0 No comment PLCB4 99.82 0 No comment SALL4 99.95 0 No comment SNRPB 100.00 0 No comment CFAP410 97.53 0 No comment PCNT 99.77 0 No comment CDC45 99.98 0 No comment EP300 99.98 0 No comment FBLN1 96.88 0 No comment MYO18B 99.99 0 No comment PISD 100.00 0 No comment SMARCB1 99.82 0 No comment ARHGAP31 100.00 0 No comment ANTXR1 99.99 0 No comment CASR 100.00 0 No comment CRTAP 81.42 0 No comment DVL3 99.34 0 No comment EOGT 99.98 0 No comment FLNB 99.96 0 No comment GLB1 99.90 0 No comment IFT122 99.99 0 No comment IFT80 100.00 0 No comment MECOM 100.00 0 No comment PCYT1A 99.99 0 No comment PIK3CA 99.96 0 No comment PLOD2 99.98 0 No comment PTH1R 99.25 0 No comment SETD2 99.95 0 No comment SLCO2A1 96.63 0 No comment SUMF1 99.78 0 No comment DYNLT2B 100.00 0 No comment TGFBR2 99.95 0 No comment THPO 99.99 0 No comment TP63 100.00 0 No comment TRAIP 100.00 0 No comment WNT5A 98.62 0 No comment WNT7A 99.99 0 No comment AGA 99.97 0 No comment ANTXR2 99.90 0 No comment BMPR1B 100.00 0 No comment CC2D2A 98.16 0 No comment CENPE 99.94 0 No comment DMP1 100.00 0 No comment EDNRA 100.00 0 No comment EVC 94.28 0 No comment EVC2 95.65 0 No comment FGFR3 96.50 0 No comment HPGD 99.90 0 No comment IDUA 72.91 0 No comment INTU 99.96 0 No comment MANBA 99.98 0 No comment NEK1 99.99 0 No comment NKX3-2 81.45 0 No comment RAB33B 100.00 0 No comment RBPJ 99.99 0 No comment SEC24D 99.96 0 No comment SGMS2 100.00 0 No comment SH3BP2 91.41 0 No comment SLC10A7 100.00 0 No comment TMEM165 84.88 0 No comment UFSP2 99.95 0 No comment WDR19 99.86 0 No comment ANKH 100.00 0 No comment SLURP1 89.49 0 No comment B4GALT7 94.62 0 No comment CEP120 99.94 0 No comment CSF1R 99.99 0 No comment DNAJC21 98.67 0 No comment FBN2 100.00 0 No comment FGF10 99.98 0 No comment HSPA9 99.97 0 No comment LIFR 99.96 0 No comment MSX2 96.59 0 No comment NIPBL 99.88 0 No comment NPRL3 98.86 0 No comment NSD1 99.98 0 No comment PDE4D 95.51 0 No comment PITX1 85.50 0 No comment SH3PXD2B 98.58 0 No comment SLC26A2 100.00 0 No comment SPARC 99.99 0 No comment TCOF1 99.93 0 No comment XRCC4 100.00 0 No comment ZSWIM6 86.31 0 No comment ARID1B 87.88 0 No comment CCN6 100.00 0 No comment CILK1 99.98 0 No comment COL10A1 99.95 0 No comment COL11A2 99.39 0 No comment COL9A1 99.98 0 No comment CUL7 99.99 0 No comment DSE 99.98 0 No comment EDN1 100.00 0 No comment ENPP1 94.24 0 No comment FIG4 99.98 0 No comment GCM2 100.00 0 No comment GJA1 100.00 0 No comment GMNN 99.76 0 No comment ID4 47.73 0 No comment MAP3K7 99.98 0 No comment NEU1 100.00 0 No comment OSTM1 98.35 0 No comment PEX7 89.02 0 No comment POLR1C 90.66 0 No comment RAB23 100.00 0 No comment RIPPLY2 99.13 0 No comment RUNX2 98.89 0 No comment SLC17A5 99.77 0 No comment TAB2 99.99 0 No comment TENT5A 100.00 0 No comment TREM2 100.00 0 No comment BMPER 99.99 0 No comment COL1A2 99.76 0 No comment DLX5 100.00 0 No comment DLX6 97.97 0 No comment EZH2 99.99 0 No comment FAM20C 85.07 0 No comment FKBP14 100.00 0 No comment GLI3 99.57 0 No comment GUSB 99.07 0 No comment HOXA11 93.99 0 No comment HOXA13 62.78 0 No comment LFNG 77.64 0 No comment MET 100.00 0 No comment MNX1 57.45 0 No comment PORCN 100.00 0 No comment SBDS 100.00 0 No comment SFRP4 100.00 0 No comment SHH 84.39 0 No comment SNX10 100.00 0 No comment TBXAS1 99.97 0 No comment TRPV6 97.14 0 No comment TWIST1 65.85 0 No comment DYNC2I1 99.46 0 No comment BMP1 98.10 0 No comment CA2 99.75 0 No comment CSGALNACT1 100.00 0 No comment ESCO2 99.58 0 No comment EXT1 100.00 0 No comment EXTL3 100.00 0 No comment FGFR1 100.00 0 No comment GDF6 78.76 0 No comment HGSNAT 93.82 0 No comment BPNT2 95.84 0 No comment NSMCE2 100.00 0 No comment BVES 100.00 0 No comment PTDSS1 100.00 0 No comment RAD21 99.73 0 No comment RECQL4 96.02 0 No comment RSPO2 100.00 0 No comment SLCO5A1 100.00 0 No comment SULF1 100.00 0 No comment TMEM67 98.60 0 No comment TNFRSF11B 100.00 0 No comment TONSL 97.93 0 No comment TRPS1 100.00 0 No comment ADAMTSL2 99.89 0 No comment COL27A1 99.30 0 No comment DDX58 99.67 0 No comment LMX1B 99.15 0 No comment MTAP 100.00 0 No comment NANS 99.98 0 No comment NOTCH1 98.74 0 No comment NPRL2 100.00 0 No comment ROR2 96.45 0 No comment SLC34A3 99.88 0 No comment TGFBR1 93.53 0 No comment TMEM38B 99.95 0 No comment DYNC2I2 90.81 0 No comment AIFM1 99.79 0 No comment AMER1 99.98 0 No comment ARSL 99.11 0 No comment BGN 99.92 0 No comment CCNQ 85.14 0 No comment CLCN5 99.91 0 No comment EFNB1 99.50 0 No comment FLNA 99.50 0 No comment HDAC8 99.86 0 No comment IDS 99.52 0 No comment IKBKG 95.61 0 No comment MBTPS2 99.93 0 No comment NSDHL 99.99 0 No comment OFD1 99.25 0 No comment PHEX 96.86 0 No comment PLS3 99.84 0 No comment SHOX 87.73 0 No comment SMC1A 99.50 0 No comment TRAPPC2 99.83 0 No comment -
Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATXN8 ATXN10 PPP2R2B TBP -
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATXN1 ATXN2 ATXN3 CACNA1A ATXN7 -
Stickler syndrome (4 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments COL11A1 COL2A1 COL9A1 COL9A2 -
Treacher Collins (3 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments POLR1C POLR1D TCOF1 -
Usher syndrome (10 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDH23 CLRN1 WHRN ADGRV1 MYO7A PCDH15 PDZD7 USH1C USH1G USH2A -
Waardenburg syndrome (6 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments EDN3 EDNRB PAX3 SNAI2 SOX10 MITF