Genetic tests

Full name Analytes Gene panels Disease Laboratory
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Médicale UCL
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Antwerpen
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - Erasme ULB
Huntington disease - HTT gene CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Brussel VUB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - CHU Sart-Tilman
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Menselijke Erfelijkheid - KUL
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
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene) SCN4A Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form Centrum Medische Genetica - UZ Brussel VUB
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