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Analytes
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Disease
Laboratory
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
Primary lymphedema / fetal hydrops (gene panel)
Lymphedema / fetal hydrops (27 genes) - UCL
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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
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Noonan syndrome
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Oculodentodigital dysplasia
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Microcephaly-lymphedema-chorioretinopathy syndrome
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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
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Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Enzymatic dosage MPS1/Hurler syndrome
Hurler-Scheie syndrome
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Hurler syndrome
Centrum Medische Genetica - UZ Brussel VUB
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
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Autosomal dominant polycystic kidney disease
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Isolated polycystic liver disease
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Infantile nephronophthisis
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Juvenile nephronophthisis
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Late-onset nephronophthisis
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Bardet-Biedl syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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