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
Wiskott-Aldrich syndrome WAS Wiskott-Aldrich syndrome Centrum Menselijke Erfelijkheid - KUL
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
Albright hereditary osteodystrophy GNAS Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism type 1A, Pseudohypoparathyroidism type 1C Centre de Génétique Humaine - Erasme ULB
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
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