Genetic tests

Full name Analytes Gene panels Disease Laboratory
Vas deferens, congenital bilateral aplasia of, X-linked (ADGRG2 gene) ADGRG2 Congenital bilateral absence of vas deferens Centrum Medische Genetica - UZ Brussel VUB
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
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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