Genetic tests

Full name Analytes Gene panels Disease Laboratory
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G) MT-ATP6 NARP syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cerebral cavernous malformation (gene panel) KRIT1, CCM2, PDCD10 Cerebral cavernous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Familial cerebral cavernous malformation Centre de Génétique Médicale UCL
CYP3A5*3 genotyping - drug metabolism - Pharmacogenetics CYP3A5 Tacrolimus dose selection Centre de Génétique Humaine - CHU Sart-Tilman
CYP3A5*3,(*6) genotyping - drug metabolism - Pharmacogenetics CYP3A5 Tacrolimus dose selection Centre de Génétique Médicale UCL
Transthyretine amyloïdose TTR ATTRV30M amyloidosis, ATTRV122I amyloidosis Centrum Medische Genetica - UZ Gent
Amyloidosis, cardiac (full screening of the 4 exons for TTR) TTR Hereditary ATTR amyloidosis Centrum Medische Genetica - UZ Antwerpen
TRANSTHYRETIN (TTR) Analysis TTR Hereditary ATTR amyloidosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
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