Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Response to antiviral treatment in hepatitis C - IL28B genotyping (rs8099917 (T>G) + rs12979860 (C>T)) - Pharmacogenetics IFNL3 Response to antiviral treatment in hepatitis C Centre de Génétique Médicale UCL
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) PMP22 Charcot-Marie-Tooth disease type 1A, Dejerine-Sottas syndrome, Hereditary neuropathy with liability to pressure palsies Centrum Menselijke Erfelijkheid - KUL
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel) TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, GPR143 Ocular and oculocutaneous albinism - UGent Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B, Oculocutaneous albinism type 2, Oculocutaneous albinism type 3, Oculocutaneous albinism type 4, Oculocutaneous albinism type 6, Oculocutaneous albinism type 7 Centrum Medische Genetica - UZ Gent