Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Overgrowth & vascular anomalies (gene panel) Overgrowth & vascular anomalies (65 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Sturge-Weber syndrome (gene panel) Sturge-Weber syndrome (65 genes) - KUL Sturge-Weber syndrome Centrum Menselijke Erfelijkheid - KUL
Becker nevus ACTB Becker nevus syndrome Centrum Menselijke Erfelijkheid - KUL
Hyperparathyroidism (gene panel) AIP, MEN1, CDKN1B, PRKAR1A, RET Familial isolated hyperparathyroidism Centre de Génétique Humaine - CHU Sart-Tilman
41 pharmacogenes analysis pharmacogenes analysis Centre de Génétique Médicale UCL
Epileptic encephalopathies (virtual gene panel) Centre de Génétique Médicale UCL
Lymphoproliferative syndrome, X-linked (XIAP gene) XIAP X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to XIAP deficiency Centrum Menselijke Erfelijkheid - KUL
Rasopathies (virtual gene panel) Centre de Génétique Médicale UCL
Myopia (early onset high myopia) Myopia gene panel - UGent Centrum Medische Genetica - UZ Gent
Premature ovarian insufficiency (POI) (gene panel – 138 genes) Centrum Menselijke Erfelijkheid - KUL
Infertility due to oocyte maturation disorders (OMD), preimplantation embryonic lethality (PREMBL), oocyte/zygote/embryo maturation arrest (OZEMA) and/or total fertilization failure (TFF) (gene panel – 47 genes) Centrum Menselijke Erfelijkheid - KUL
Infertility due to sperm defects (gene panel – 193 genes) Centrum Menselijke Erfelijkheid - KUL
Craniosynostosis (gene panel) Craniosynostosis (UZ Gent) Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72 C9ORF72 Amyotrophic lateral sclerosis type 4, Frontotemporal dementia with motor neuron disease Centrum Medische Genetica - UZ Gent
Tuberous sclerosis TSC1, TSC2 Tuberous sclerosis complex Centrum Medische Genetica - UZ Gent
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