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Analytes
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Disease
Laboratory
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
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Vascular malformations (germline) (38 genes) - UCL
Hereditary hemorrhagic telangiectasia
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Heritable pulmonary arterial hypertension
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Familial cerebral saccular aneurysm
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Vein of Galen aneurysmal malformation
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Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
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Capillary malformation-arteriovenous malformation
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Parkes Weber syndrome
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Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*)
AMPD1
Adenosine monophosphate deaminase deficiency
Centrum Medische Genetica - UZ Brussel VUB
Fanconi anemia (gene panel)
Fanconi anemia - UGent
Fanconi anemia
Centrum Medische Genetica - UZ Gent
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
Centrum Medische Genetica - UZ Antwerpen
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
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