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
Li-Fraumeni syndrome TP53 Li-Fraumeni syndrome Centrum Menselijke Erfelijkheid - KUL
Amyloidosis (TTR full sanger exon sequencing) TTR Hereditary ATTR amyloidosis, ATTRV30M amyloidosis, ATTRV122I amyloidosis 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
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease SH2D1A X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to SH2D1A deficiency Centrum Menselijke Erfelijkheid - KUL
End-stage renal disease, ESRD (gene panel) End-stage renal disease (106 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrocalcinosis and nephrolithiasis (gene panel) Nephrocalcinosis and nephrolithiasis (37 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Parathyroid tumor (gene panel) CASR, CDC73, MEN1, RET Parathyroid tumor (4 genes) - KUL Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Menselijke Erfelijkheid - KUL
Maffucci syndrome (gene panel) Maffucci syndrome (65 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
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