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Analytes
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Laboratory
Small cell carcinoma of the ovary
SMARCA4
Small cell carcinoma of the ovary
Centrum Medische Genetica - UZ Gent
Rare non-epithelial ovarian neoplasms (2 genes)
DICER1
,
SMARCA4
Small cell carcinoma of the ovary
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
Centrum Menselijke Erfelijkheid - KUL
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)
SMARCB1
,
SMARCA4
Rhabdoid tumor predisposition syndrome
Centrum Menselijke Erfelijkheid - KUL
Phenylketonuria
PAH
Classic phenylketonuria
Centre de Génétique Humaine - Erasme ULB
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
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
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