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Hereditary Polyposis Panel (11 genes) - ULG
APC
,
MUTYH
,
BMPR1A
,
NTHL1
,
SMAD4
,
MSH3
,
POLE
,
POLD1
,
PTEN
,
STK11
,
GREM1
Hereditary Polyposis Panel (11 genes) - ULG
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Turcot syndrome with polyposis
,
Hereditary mixed polyposis syndrome
,
Generalized juvenile polyposis/juvenile polyposis coli
Centre de Génétique Humaine - CHU Sart-Tilman
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
HEXA
Tay-Sachs disease, B variant, adult form
,
Tay-Sachs disease, B variant, juvenile form
,
Tay-Sachs disease, B variant, infantile form
Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
HEXA
Tay-Sachs disease, B variant, juvenile form
,
Tay-Sachs disease, B variant, infantile form
,
Tay-Sachs disease, B1 variant
,
Tay-Sachs disease, B variant, adult form
Centrum Medische Genetica - UZ Brussel VUB
Albright hereditary osteodystrophy
GNAS
Pseudopseudohypoparathyroidism
,
Pseudohypoparathyroidism type 1A
,
Pseudohypoparathyroidism type 1C
Centre de Génétique Humaine - Erasme ULB
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