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Analytes
Gene panels
Disease
Laboratory
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
Kallmann syndrome (ANOS1 gene)
ANOS1
Kallmann syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique Humaine - Erasme ULB
Hyperoxaluria
AGXT
,
GRHPR
,
HOGA1
Primary hyperoxaluria type 1
,
Primary hyperoxaluria type 2
,
Primary hyperoxaluria type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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