Genetic tests

Full name Analytes Gene panels Disease Laboratory
Familial hemiplegic Migraine (gene panel) Familial hemiplegic Migraine (8 genes) - KUL Familial or sporadic hemiplegic migraine Centrum Menselijke Erfelijkheid - KUL
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene) FGFR3 Thanatophoric dysplasia type 2, Thanatophoric dysplasia type 1 Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome (ANOS1 gene) ANOS1 Kallmann syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene) FGFR1 Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism Centre de Génétique Humaine - CHU Sart-Tilman
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
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