Genetic tests

Full name Analytes Gene panels Disease Laboratory
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Menselijke Erfelijkheid - KUL
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Gent
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Antwerpen
Steinert myotonic dystrophy - DMPK gene CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Brussel VUB
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centre de Génétique Humaine - CHU Sart-Tilman
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
Hyperthyroidism ( familial gestational or familial nonautoimmune, hypothyroidism, thyrotropin) - TSHR TSHR Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism Centre de Génétique Humaine - Erasme ULB
Cholestasis, progressive familial intrahepatic (gene panel) ABCB11, ABCB4, ATP8B1, NR1H4, TJP2 Cholestasis, progressive familial intrahepatic (5 genes) - UCL Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 4, Progressive familial intrahepatic cholestasis type 5, Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 2 Centre de Génétique Médicale UCL
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