Genetic tests

Full name Analytes Gene panels Disease Laboratory
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Medische Genetica - UZ Antwerpen
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Prader-Willi syndrome due to imprinting mutation, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Centre de Génétique Humaine - Erasme ULB
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique Humaine - CHU Sart-Tilman
Bile Acid Synthesis Congenital Defect (gene panel) AKR1D1, AMACR, CYP7B1, HSD3B7, CYP27A1 Bile Acid Synthesis Congenital Defect (5 genes) - UCL Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Cerebrotendinous xanthomatosis, Congenital bile acid synthesis defect type 3, Congenital bile acid synthesis defect type 1 Centre de Génétique Médicale UCL
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
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