Genetic tests

Full name Analytes Gene panels Disease Laboratory
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat) FRG1 Facioscapulohumeral dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral Muscular Dystrophy 2 (hypomethylation D4Z4 repeats) FRG1 Facioscapulohumeral dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat) FRG1 Facioscapulohumeral dystrophy Centrum Menselijke Erfelijkheid - KUL
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Médicale UCL
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Antwerpen
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - Erasme ULB
Huntington disease - HTT gene CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Brussel VUB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - CHU Sart-Tilman
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val ) SERPINA1 Alpha-1-antitrypsin deficiency Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S)) SERPINA1 Alpha-1-antitrypsin deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel) Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG Hemolytic uremic syndrome with DGKE deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with H factor anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly Centre de Génétique-Institut de Pathologie et de Génétique (IPG)