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Analytes
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Sturge-Weber syndrome (gene panel)
Sturge-Weber syndrome (65 genes) - KUL
Sturge-Weber syndrome
Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Congenital Central Hypoventilation Syndrome / Ondine syndrome
PHOX2B
Congenital central hypoventilation syndrome
Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / ISS
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique Humaine - CHU Sart-Tilman
Malformations of cortical development (235 genes)
Malformations of cortical development (235 genes) - VUB
Bilateral perisylvian polymicrogyria
,
Cobblestone lissencephaly without muscular or ocular involvement
,
Lissencephaly due to LIS1 mutation
,
Lissencephaly due to TUBA1A mutation
,
Lissencephaly syndrome, Norman-Roberts type
,
Lissencephaly type 1 due to doublecortin gene mutation
,
Microlissencephaly
,
Polymicrogyria due to TUBB2B mutation
,
Subcortical band heterotopia
,
X-linked lissencephaly with abnormal genitalia
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage MPS1/Hurler syndrome
Hurler-Scheie syndrome
,
Hurler syndrome
Centrum Medische Genetica - UZ Brussel VUB
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