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Analytes
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Disease
Laboratory
Combined immunodeficiency (severe), X-linked
IL2RG
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Centrum Menselijke Erfelijkheid - KUL
Capillary malformation - arteriovenous malformation (2 genes)
RASA1
,
EPHB4
Capillary/arteriovenous malformation (2 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Capillary malformation-arteriovenous malformation
,
Vein of Galen aneurysmal malformation
,
Parkes Weber syndrome
Centre de Génétique Médicale UCL
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
,
Vascular malformations (germline) (38 genes) - UCL
Hereditary hemorrhagic telangiectasia
,
Heritable pulmonary arterial hypertension
,
Familial cerebral saccular aneurysm
,
Vein of Galen aneurysmal malformation
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
,
Capillary malformation-arteriovenous malformation
,
Parkes Weber syndrome
,
Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome
FOXP3
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Centrum Menselijke Erfelijkheid - KUL
Alport autosomal recessive and X-linked and hematuria (3 genes)
COL4A3
,
COL4A4
,
COL4A5
Alport (X-linked and recessive) (3 genes) - IPG
Autosomal recessive Alport syndrome
,
X-linked Alport syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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