Genetic tests

Full name Analytes Gene panels Disease Laboratory
Usher syndrome (gene panel) CDH23, CLRN1, WHRN, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A Usher syndrome (10 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations) ASPA, ELP1, HEXA, FANCC Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA Centrum Medische Genetica - UZ Antwerpen
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form Centrum Medische Genetica - UZ Brussel VUB
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
Obesity (gene panel) ADCY3, BDNF, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, SIM1, UCP3 Obesitas (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Obesitas, early onset (gene panel) MC4R, MC3R, LEP, LEPR, PCSK1, POMC, SIM1, NTRK2 Obesitas, early onset (8 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
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