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Analytes
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Disease
Laboratory
Von Willebrand disease
VWF
Von Willebrand disease type 1
,
Von Willebrand disease type 2A
,
Von Willebrand disease type 2M
,
Von Willebrand disease type 2B
,
Von Willebrand disease type 2N
,
Von Willebrand disease type 3
Centrum Medische Genetica - UZ Antwerpen
RASopathy (gene panel)
RASopathy - KUL
Noonan syndrome
Centrum Menselijke Erfelijkheid - KUL
Noonan syndrome (Screening PTPN11)
PTPN11
Noonan syndrome
,
Noonan syndrome with multiple lentigines
Centrum Menselijke Erfelijkheid - KUL
Primary lymphedema / fetal hydrops (gene panel)
Lymphedema / fetal hydrops (27 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
,
Cardiofaciocutaneous syndrome
,
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
,
Noonan syndrome
,
Oculodentodigital dysplasia
,
Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
,
Lymphedema-distichiasis syndrome
,
Lymphedema-posterior choanal atresia syndrome
,
Hennekam syndrome
,
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Stickler syndrome (gene panel)
COL2A1
,
COL11A1
,
COL9A1
,
COL9A2
Stickler syndrome (4 genes) - UZA
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal recessive Stickler syndrome
Centrum Medische Genetica - UZ Antwerpen
Oculo Dento Digital Dysplasia
GJA1
Oculodentodigital dysplasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
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