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Analytes
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Disease
Laboratory
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
Neurodevelopmental disorders gene panel
Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
Infantile neuroaxonal dystrophy
Centrum Medische Genetica - UZ Brussel VUB
MUC1-VNTR insertion
MUC1
MUC1-related autosomal dominant tubulointerstitial kidney disease
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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