Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations) CACNA1S Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Malignant hypertermia RYR1, CACNA1S Malignant hyperthermia of anesthesia Centrum Medische Genetica - UZ Gent
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
Silver-Russell syndrome 11p15.5, 7p12.1, 7q32.2 Silver-Russell syndrome, Silver-Russell syndrome due to an imprinting defect of 11p15, Silver-Russell syndrome due to 11p15 microduplication Centre de Génétique Médicale UCL
Uniparental disomy 7p12.1, 7q32.2 Silver-Russell syndrome Centre de Génétique Médicale UCL
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