Genetic tests

Full name Analytes Gene panels Disease Laboratory
Episodic ataxia 2 CACNA1A Familial paroxysmal ataxia Centrum Menselijke Erfelijkheid - KUL
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes) GAMT, GATM Guanidinoacetate methyltransferase deficiency, L-Arginine:glycine amidinotransferase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorders (50 hot spot mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Idiopathic bronchiectasis, Hereditary chronic pancreatitis Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorder (Full sequencing) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis and related disorders (TG repeat intron 8) CFTR Cystic fibrosis Centre de Génétique Humaine - CHU Sart-Tilman
Recessive nonsyndromic hearing loss and deafness (2 genes) GJB2, GJB6 Non syndromic hearing loss and deafness (2 genes) - IPG - ULG Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - CHU Sart-Tilman
Diffuse gastric cancer (CDH1 gene) CDH1 Hereditary diffuse gastric cancer Centre de Génétique Humaine - CHU Sart-Tilman
Factor V- cambridge, liverpool and hong kong variant (hot spot mutations - p.Arg334Thr, p.Arg306) F5 Congenital factor V deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Familial Mediterranean Fever MEFV Familial Mediterranean fever Centre de Génétique Humaine - CHU Sart-Tilman
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat) FRG1 Facioscapulohumeral dystrophy Centrum Menselijke Erfelijkheid - KUL
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI) FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity Centre de Génétique Humaine - Erasme ULB
Glycogen storage disease type 9 PHKA2 Glycogen storage disease due to liver phosphorylase kinase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Glycogen storage disease type 0 GYS2 Glycogen storage disease due to hepatic glycogen synthase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Glycogen storage disease type 1a G6PC1 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Centre de Génétique Humaine - CHU Sart-Tilman
Familial hemiplegic Migraine (gene panel) Familial hemiplegic Migraine (8 genes) - KUL Familial or sporadic hemiplegic migraine Centrum Menselijke Erfelijkheid - KUL
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 4 (SLC40A1 gene) SLC40A1 Hemochromatosis type 4 Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis, juvenile (HJV and HAMP genes) HAMP HJV or HAMP-related hemochromatosis Centre de Génétique Humaine - CHU Sart-Tilman
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