Genetic tests

Full name Analytes Gene panels Disease Laboratory
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*) ASPA Mild Canavan disease, Severe Canavan disease Centrum Medische Genetica - UZ Antwerpen
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
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
Gaucher disease diagnostic (GBA gene sequencing) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; ) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage MPS1/Hurler syndrome Hurler-Scheie syndrome, Hurler syndrome Centrum Medische Genetica - UZ Brussel VUB