Genetic tests

Full name Analytes Gene panels Disease Laboratory
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Menselijke Erfelijkheid - KUL
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique Humaine - CHU Sart-Tilman
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel) Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG Hemolytic uremic syndrome with DGKE deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with H factor anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Transthyretine amyloïdose TTR ATTRV30M amyloidosis, ATTRV122I amyloidosis Centrum Medische Genetica - UZ Gent
Amyloidosis (TTR full sanger exon sequencing) TTR Hereditary ATTR amyloidosis, ATTRV30M amyloidosis, ATTRV122I amyloidosis Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia TTR ATTRV30M amyloidosis, ATTRV122I amyloidosis, Hereditary ATTR amyloidosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (full sanger screening of the 4 exons for TTR) TTR ATTRV30M amyloidosis, ATTRV122I amyloidosis Centrum Menselijke Erfelijkheid - KUL
Malformations of cortical development (235 genes) Malformations of cortical development (235 genes) - VUB Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia Centrum Medische Genetica - UZ Brussel VUB