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Analytes
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Disease
Laboratory
Clouston syndrome
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Leigh syndrome
COX15
Leigh syndrome with leukodystrophy
,
Leigh syndrome with cardiomyopathy
Centrum Medische Genetica - UZ Brussel VUB
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
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