Genetic tests

Full name Analytes Gene panels Disease Laboratory
Factor V- cambridge, liverpool and hong kong variant (hot spot mutations - p.Arg334Thr, p.Arg306) F5 Congenital factor V deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
Cholestasis, intrahepatic (2 genes among ATP8B1, ABCB11, ABCB4) ATP8B1, ABCB11, ABCB4 Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Intrahepatic cholestasis of pregnancy Centre de Génétique Humaine - CHU Sart-Tilman
Cholestasis (gene panel) ABCB11, ABCB4, AKR1D1, AMACR, ATP8B1, BAAT, BCS1L, CC2D2A, CLDN1, CYP27A1, CYP7B1, DCDC2, DGUOK, HNF1B, HSD3B7, INVS, JAG1, MKS1, MPV17, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PKHD1, PNPLA3, POLG, SLC25A13, SMPD1, TJP2, TALDO1, TMC4, TMEM216, TM6SF2, TRMU, UGT1A1, VIPAS39, VPS33B Cholestasis (40 genes) - UCL Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Intrahepatic cholestasis of pregnancy, Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Progressive familial intrahepatic cholestasis type 1, Familial hypercholanemia, GRACILE syndrome, Isolated complex III deficiency, Meckel syndrome, Joubert syndrome, Congenital bile acid synthesis defect type 3, Isolated neonatal sclerosing cholangitis, Neonatal ichthyosis-sclerosing cholangitis syndrome, Infantile nephronophthisis, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Congenital bile acid synthesis defect type 1, Alagille syndrome due to a JAG1 point mutation, Bardet-Biedl syndrome, Alagille syndrome due to a NOTCH2 point mutation, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, adult neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset, Senior-Loken syndrome, Renal-hepatic-pancreatic dysplasia, Progressive familial intrahepatic cholestasis type 5, Autosomal recessive polycystic kidney disease, Caroli disease, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency, Citrullinemia type II, Chronic visceral acid sphingomyelinase deficiency, Infantile neurovisceral acid sphingomyelinase deficiency, Progressive familial intrahepatic cholestasis type 4, Transaldolase deficiency, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 2, Arthrogryposis, renal dysfunction, and cholestasis, Cerebrotendinous xanthomatosis Centre de Génétique Médicale UCL
Cholestasis, intrahepatic of pregnancy (2 genes) ABCB4, ATP8B1 Cholestasis, intrahepatic of pregnancy (2 genes) - UCL Intrahepatic cholestasis of pregnancy Centre de Génétique Médicale UCL
Cholestasis, intrahepatic (1 gene among ATP8B1, ABCB11,ABCB4) ATP8B1, ABCB11, ABCB4 Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Intrahepatic cholestasis of pregnancy Centre de Génétique Humaine - CHU Sart-Tilman
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Familial medullary thyroid carcinoma Centrum Menselijke Erfelijkheid - KUL
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma Centre de Génétique Humaine - Erasme ULB
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma, Hirschsprung disease Centrum Medische Genetica - UZ Gent
Medullary thyroid carcinoma RET Medullary thyroid carcinoma (3 genes) - UCL Familial medullary thyroid carcinoma Centre de Génétique Médicale UCL
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
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
Hereditary nonpolyposis colorectal cancer (gene panel) MLH1, MSH2, MSH6, PMS2, EPCAM, APC, BMPR1A, CDH1, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, STK11, SMAD4, TP53 Hereditary nonpolyposis colorectal cancer, Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Médicale UCL
Microsatellite instability analysis Hereditary nonpolyposis colorectal cancer, Lynch syndrome Centrum Medische Genetica - UZ Gent
Hereditary nonpolyposis colorectal cancer / Lynch syndrome (8 genes) MLH1, MSH2, MSH6, EPCAM, MUTYH, POLE, POLD1, TP53 Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG Lynch syndrome, Constitutional mismatch repair deficiency syndrome, Hereditary nonpolyposis colorectal cancer Centre de Génétique Humaine - CHU Sart-Tilman
Download XLSX
Download PDF