Genetic tests

Full name Analytes Gene panels Disease Laboratory
CANVAS disease - repeat in RFC1 gene RFC1 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Centrum Menselijke Erfelijkheid - KUL
Myeloid/lymphoid neoplasms with germline predisposition Centre de Génétique Humaine - CHU Sart-Tilman
Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel) Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Inherited Kidney Diseases (Gene Panel) Panel Nephro-ULG-V1 Centre de Génétique Humaine - CHU Sart-Tilman
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel) Subfertility, infertility and gamete malfunction - UGent Centrum Medische Genetica - UZ Gent
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centre de Génétique Humaine - CHU Sart-Tilman
TPMT*2,*3A, *3B, *3C, *3D, *4 - drug metabolism - Pharmacogenetics TPMT Centre de Génétique Médicale UCL
MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics MTHFR Centre de Génétique Médicale UCL
Li-Fraumeni syndrome TP53 Li-Fraumeni syndrome Centrum Menselijke Erfelijkheid - KUL
Test Cytogenetics analysis (BCR-ABL fusion gene ((t(9;22)) / Philadelphia chromosome) Sciensano
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS)) SLC25A20 Carnitine-acylcarnitine translocase deficiency Sciensano
Amyloidosis (TTR full sanger exon sequencing) TTR Hereditary ATTR amyloidosis, ATTRV30M amyloidosis, ATTRV122I amyloidosis Centre de Génétique Humaine - CHU Sart-Tilman
test (α-D-galactosidase) Centre de Génétique Humaine - CHU Sart-Tilman
CYP3A5*3 genotyping - drug metabolism - Pharmacogenetics CYP3A5 Tacrolimus dose selection Centre de Génétique Humaine - CHU Sart-Tilman
Dilated Cardiomyopathy (Gene panel) Dilated Cardiomyopathy (79 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Silver-Russell syndrome (11p15 methylation) Centrum Menselijke Erfelijkheid - KUL
Epilepsy without developmental delay, familial (gene panel) (Familial) epilepsy without developmental delay (gene panel) Centrum Medische Genetica - UZ Antwerpen
Breast Cancer Trial BRCA1, BRCA2 Centrum Menselijke Erfelijkheid - KUL