Genetic tests

Full name Analytes Gene panels Disease Laboratory
Metabolic diseases with hepatic disorders (20 genes) ATP7B, CPT1A, CYP27A1, DGUOK, DHCR7, EHHADH, GBE1, GNAS, GUSB, LIPA, MPV17, NEU1, NPC1, NPC2, POLG, SI, SLC25A13, SMPD1, TALDO1, TRMU Metabolic diseases with hepatic disorders (20 genes) - UCL Wilson disease, CPT deficiency, hepatic, type IA, Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency, Smith-Lemli-Opitz syndrome, Primary Fanconi renotubular syndrome, Glycogen storage disease IV, McCune-Albright syndrome, Mucopolysaccharidosis type 7, Wolman disease, Cholesteryl ester storage disease, Sialidosis type 1, Juvenile sialidosis type 2, Congenital sialidosis type 2, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, adult neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset, Chronic visceral acid sphingomyelinase deficiency, Infantile neurovisceral acid sphingomyelinase deficiency, Congenital sucrase-isomaltase deficiency with starch and lactose intolerance, Citrullinemia type II, Transaldolase deficiency, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Cerebrotendinous xanthomatosis Centre de Génétique Médicale UCL
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutation - p.Asn540) FGFR3 Hypochondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540Lys) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (Hotspot mutation p.(Asn540Lys)) FGFR3 Hypochondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Ehlers-Danlos Syndrome, vascular type (type IV) COL3A1 Vascular Ehlers-Danlos syndrome Centrum Medische Genetica - UZ Gent
Melanoma (6 genes) BAP1, CDK4, CDKN2A, MC1R, MITF, POT1 Melanoma (6 genes) - UCL Familial melanoma, MITF-related melanoma and renal cell carcinoma predisposition syndrome, Uveal melanoma, Melanoma of soft tissue Centre de Génétique Médicale UCL
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