Genetic tests

Full name Analytes Gene panels Disease Laboratory
Globozoospermia (DPY19L2 gene) DPY19L2 Male infertility due to globozoospermia Centrum Medische Genetica - UZ Brussel VUB
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique Humaine - Erasme ULB
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)
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
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