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
Perrault syndrome (gene panel) TWNK, CLPP, HARS2, HSD17B4, LARS2 Perrault syndrome (5 genes) - UZA Perrault syndrome Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 2 to type 5 (5 genes) HAMP, FTH1, SLC40A1, TFR2, HJV Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis, Hemochromatosis type 4, Hemochromatosis type 5 Centre de Génétique Médicale UCL
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L) BCL11A, HBG2, HBS1L Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hemoglobinopathy Toms River Centre de Génétique Humaine - Erasme ULB
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