Genetic tests

Full name Analytes Gene panels Disease Laboratory
Colon carcinoma (hereditary/familial) (gene panel) Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB APC-related attenuated familial adenomatous polyposis, Familial adenomatous polyposis, Familial colorectal cancer Type X, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary mixed polyposis syndrome, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, MUTYH-related attenuated familial adenomatous polyposis Centrum Medische Genetica - UZ Brussel VUB
Hereditary Polyposis Panel (11 genes) - ULG APC, MUTYH, BMPR1A, NTHL1, SMAD4, MSH3, POLE, POLD1, PTEN, STK11, GREM1 Hereditary Polyposis Panel (11 genes) - ULG Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Turcot syndrome with polyposis, Hereditary mixed polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli Centre de Génétique Humaine - CHU Sart-Tilman
Adenomatous polyposis, familial (gene panel) APC, MUTYH, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, NTHL1, PMS2, POLD1, POLE, PTEN, STK11, CDH1, SMAD4, TP53 Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Hereditary nonpolyposis colorectal cancer, Lynch syndrome Centre de Génétique Médicale UCL
Hepatorenal disorders (gene panel) BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216 Hepatorenal disorders (13 genes) - UCL GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease Centre de Génétique Médicale UCL
Lipodystrophy (2 genes) AGPAT2, BSCL2 Lipodystrophy (2 genes) - IPG Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (type 13) KCNC3 Spinocerebellar ataxia type 13 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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