Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Familial hypercholanemia (3 genes) BAAT, EPHX1, TJP2 Familial hypercholanemia (3 genes) - UCL Familial hypercholanemia Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Menselijke Erfelijkheid - KUL
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