Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hereditary cancer (Breast, ovary, colon) (26 genes) BRCA1, BRCA2, BARD1, BRIP1, CDH1, MLH1, MSH2, MSH6, MEN1, PTEN, RAD50, RAD51D, STK11, TP53, CHEK2, MUTYH, PALB2, RAD51C, ATM, EPCAM, BLM, NBN, PMS2, XRCC2, ABRAXAS1, MRE11 Cancer (Breast, ovary, colon,…) (26 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Gaucher disease diagnostic (GBA gene sequencing) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; ) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
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