Genetic tests

Full name Analytes Gene panels Disease Laboratory
Beckwith-Wiedemann syndrome (11p15 methylation) H19, KCNQ1OT1, IGF2 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome Centrum Menselijke Erfelijkheid - KUL
Ectopia lentis LTBP2, ADAMTSL4, FBN1 Isolated ectopia lentis Centrum Medische Genetica - UZ Gent
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type LTBP2 Weill-Marchesani syndrome, Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Centrum Medische Genetica - UZ Gent
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
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen