Genetic tests

Full name Analytes Gene panels Disease Laboratory
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val ) SERPINA1 Alpha-1-antitrypsin deficiency Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S)) SERPINA1 Alpha-1-antitrypsin deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Aarskog-Scott syndrome FGD1 Aarskog-Scott syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / ISS SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centre de Génétique Humaine - CHU Sart-Tilman
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