Genetic tests

Full name Analytes Gene panels Disease Laboratory
Waardenburg Syndrome types I and III PAX3 Waardenburg syndrome type 1, Waardenburg syndrome type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type LTBP2 Weill-Marchesani syndrome, Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Centrum Medische Genetica - UZ Gent
Pituitary adenoma (4 genes) MEN1, AIP, CDKN1B, PRKAR1A Pituitary adenoma (4 genes) - ULG Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Carney complex Centre de Génétique Humaine - CHU Sart-Tilman
Pituitary adenoma (5 genes) AIP, CDKN1B, MEN1, RET, PRKAR1A Pituitary adenoma (5 genes) - UCL Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Prolactinoma, Pituitary gigantism, Acromegaly 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
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