Genetic tests

Full name Analytes Gene panels Disease Laboratory
FMR1-premutation instability FMR1 Fragile X syndrome Centrum Menselijke Erfelijkheid - KUL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Antwerpen
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Humaine - Erasme ULB
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers, Premature Ovarian Failure Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI) FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome/FXPOI/FXTAS - FMR1 CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Menselijke Erfelijkheid - KUL
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes) GAMT, GATM Guanidinoacetate methyltransferase deficiency, L-Arginine:glycine amidinotransferase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
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
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7, Spinocerebellar ataxia type 17 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Brussel VUB
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