Genetic tests

Full name Analytes Gene panels Disease Laboratory
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centrum Menselijke Erfelijkheid - KUL
Globozoospermia (DPY19L2 gene) DPY19L2 Male infertility due to globozoospermia Centrum Medische Genetica - UZ Brussel VUB
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
Leydig cell hypoplasia or Precocious puberty, male-limited LHCGR Familial peripheral male-limited precocious puberty, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to complete LH resistance Centre de Génétique Humaine - Erasme ULB
Charcot-Marie-Tooth (CMT1A, GJB1) GJB1, PMP22 X-linked Charcot-Marie-Tooth disease type 1, Charcot-Marie-Tooth disease type 1A Centre de Génétique Humaine - Erasme ULB
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