Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hirschsprung disease Hirschsprung disease - Ugent Hirschsprung disease Centrum Medische Genetica - UZ Gent
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma, Hirschsprung disease Centrum Medische Genetica - UZ Gent
Hirschsprung disease RET Hirschsprung disease Centrum Menselijke Erfelijkheid - KUL
Hirschsprung disease RET Hirschsprung disease Centre de Génétique Médicale UCL
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
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Maternal uniparental disomy of chromosome 16 Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Centrum Menselijke Erfelijkheid - KUL