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Analytes
Gene panels
Disease
Laboratory
Hyperekplexia (gene panel-6 genes)
Hyperekplexia (6 genes) - IPG
Hereditary hyperekplexia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Intellectual Disability (gene panel)
Intellectual Disability (104 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes)
MEN1
,
CDKN1B
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
,
Familial medullary thyroid carcinoma
Centrum Menselijke Erfelijkheid - KUL
Paraganglioma-pheochromocytoma (gene panel)
SDHA
,
SDHB
,
SDHC
,
SDHD
,
SDHAF2
,
RET
,
VHL
,
NF1
Paraganglioma-pheochromocytoma (7 genes) - KUL
Hereditary pheochromocytoma-paraganglioma
Centrum Menselijke Erfelijkheid - KUL
Rett syndrome / MECP2 Duplication Syndrome
MECP2
Rett syndrome
Centrum Menselijke Erfelijkheid - KUL
Spastic paraplegia-4
SPAST
Autosomal dominant spastic paraplegia type 4
Centrum Menselijke Erfelijkheid - KUL
Beta-globin hemoglobinopathies
HBB
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Dominant beta-thalassemia
,
Hemoglobin C disease
,
Hemoglobin D disease
,
Hemoglobin E disease
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Sickle cell anemia
Centre de Génétique Médicale UCL
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Hemophilia A
F8
Hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Mild hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Hereditary angioneurotic edema (2 genes)
F12
,
SERPING1
C1 inhibitor deficiency
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
Centre de Génétique Médicale UCL
Hypercholesterolemia (9 genes)
LDLR
,
APOB
,
PCSK9
,
ABCG5
,
ABCG8
,
APOE
,
LDLRAP1
,
LIPA
,
STAP1
Hypercholesterolemia (9 genes) - UCL
Homozygous familial hypercholesterolemia
Centre de Génétique Médicale UCL
alpha-globin hemoglobinopathies
HBA1
Alpha-thalassemia
Centre de Génétique Médicale UCL
Aniridia
PAX6
Aniridia-cerebellar ataxia-intellectual disability syndrome
,
Isolated aniridia
Centrum Medische Genetica - UZ Gent
Anterior segment dysgenesis
Anterior segment dysgenesis - UGent
Anterior segment developmental anomaly
,
Axenfeld-Rieger syndrome
,
Rieger anomaly
Centrum Medische Genetica - UZ Gent
Congenital contractural arachnodactyly (Arthrogryposis Distal Type 9 / Beals-Hecht syndrome)
FBN2
Congenital contractural arachnodactyly
Centrum Medische Genetica - UZ Gent
Blepharophimosis type I /II
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
,
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Centrum Medische Genetica - UZ Gent
Multiple epiphyseal dysplasia
COL2A1
,
SLC26A2
Multiple epiphyseal dysplasia type 4
Centrum Medische Genetica - UZ Gent
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