Genetic tests

Full name Analytes Gene panels Disease Laboratory
Oculopharyngeal Muscular Dystrophy - GCN repeats expansion PABPN1 Oculopharyngeal muscular dystrophy Centrum Menselijke Erfelijkheid - KUL
Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats PABPN1 Oculopharyngeal muscular dystrophy Centrum Medische Genetica - UZ Brussel VUB
Arteriovenous malformation (gene panel) Arteriovenous malformation (7 genes), Vascular malformations (germline) (38 genes) - UCL Hereditary hemorrhagic telangiectasia, Heritable pulmonary arterial hypertension, Familial cerebral saccular aneurysm, Vein of Galen aneurysmal malformation, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Microcephaly-capillary malformation syndrome Centre de Génétique Médicale UCL
BAP1-tumor predisposition syndrome BAP1 BAP1-related tumor predisposition syndrome Centrum Medische Genetica - UZ Gent
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
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