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Analytes
Gene panels
Disease
Laboratory
Cholestasis, intrahepatic (2 genes among ATP8B1, ABCB11, ABCB4)
ATP8B1
,
ABCB11
,
ABCB4
Progressive familial intrahepatic cholestasis type 1
,
Progressive familial intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Intrahepatic cholestasis of pregnancy
Centre de Génétique Humaine - CHU Sart-Tilman
Cholestasis, intrahepatic of pregnancy (2 genes)
ABCB4
,
ATP8B1
Cholestasis, intrahepatic of pregnancy (2 genes) - UCL
Intrahepatic cholestasis of pregnancy
Centre de Génétique Médicale UCL
Cholestasis, progressive familial intrahepatic (gene panel)
ABCB11
,
ABCB4
,
ATP8B1
,
NR1H4
,
TJP2
Cholestasis, progressive familial intrahepatic (5 genes) - UCL
Progressive familial intrahepatic cholestasis type 1
,
Progressive familial intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Progressive familial intrahepatic cholestasis type 4
,
Progressive familial intrahepatic cholestasis type 5
,
Benign recurrent intrahepatic cholestasis type 1
,
Benign recurrent intrahepatic cholestasis type 2
Centre de Génétique Médicale UCL
Choroideremia
CHM
Choroideremia
Centrum Medische Genetica - UZ Gent
Chronic granulomatous disease, X-linked
CYBB
Chronic granulomatous disease
,
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Centrum Menselijke Erfelijkheid - KUL
Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Centrum Medische Genetica - UZ Brussel VUB
Ciliopathy (gene panel)
Ciliopathy (120 genes) - UGent
Centrum Medische Genetica - UZ Gent
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Autosomal recessive polycystic kidney disease
,
Autosomal dominant polycystic kidney disease
,
Isolated polycystic liver disease
,
Infantile nephronophthisis
,
Juvenile nephronophthisis
,
Late-onset nephronophthisis
,
Bardet-Biedl syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
cleft lip with/whitout cleft palate (virtual gene panel)
Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
Cleft lip/palate
Centre de Génétique Médicale UCL
Clouston syndrome
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Colon carcinoma (hereditary/familial) (gene panel)
Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
APC-related attenuated familial adenomatous polyposis
,
Familial adenomatous polyposis
,
Familial colorectal cancer Type X
,
Generalized juvenile polyposis/juvenile polyposis coli
,
Hereditary mixed polyposis syndrome
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
MUTYH-related attenuated familial adenomatous polyposis
Centrum Medische Genetica - UZ Brussel VUB
Colorectal cancer, hereditary (gene panel)
Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
Centrum Medische Genetica - UZ Gent
Colorectal cancer / Polyposis (gene panel)
Colorectal cancer/polyposis (18 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Combined immunodeficiency (severe), X-linked
IL2RG
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Centrum Menselijke Erfelijkheid - KUL
Combined pituitary hormone deficiency 1 (CPHD - POU1F1 gene)
POU1F1
Combined pituitary hormone deficiencies, genetic forms
Centrum Medische Genetica - UZ Brussel VUB
Combined pituitary hormone deficiency 2 (CPHD - PROP1 gene)
PROP1
Combined pituitary hormone deficiencies, genetic forms
Centrum Medische Genetica - UZ Brussel VUB
Congenital Central Hypoventilation Syndrome / Ondine syndrome
PHOX2B
Congenital central hypoventilation syndrome
Centrum Medische Genetica - UZ Gent
Congenital contractural arachnodactyly (Arthrogryposis Distal Type 9 / Beals-Hecht syndrome)
FBN2
Congenital contractural arachnodactyly
Centrum Medische Genetica - UZ Gent
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