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Analytes
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Disease
Laboratory
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
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Cardiofaciocutaneous syndrome
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Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
,
Noonan syndrome
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Oculodentodigital dysplasia
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Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
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Lymphedema-distichiasis syndrome
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Lymphedema-posterior choanal atresia syndrome
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Hennekam syndrome
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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Cardiofaciocutaneous syndrome (5 genes)
HRAS
,
KRAS
,
BRAF
,
MAP2K2
,
MAP2K1
Cardiofaciocutaneous syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
STAT1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
,
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
,
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Centrum Menselijke Erfelijkheid - KUL
Cardiomyopathy, hereditary (gene panel)
Cardiomyopathy, hereditary (208 genes) - VUB
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
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Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
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Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
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Familial isolated dilated cardiomyopathy
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Familial isolated restrictive cardiomyopathy
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Left ventricular noncompaction
Centrum Medische Genetica - UZ Brussel VUB
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