Neonatal intrahepatic cholestasis: gene panel
Speciality(ies) / Other Speciality(ies)
Test / Mutation List
ABCB11, ABCB4, ACAD9, AKR1D1, ASAH1, ATP8B1, BAAT, BCS1L, CC2D2A, CFTR, CLDN1, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, GBA, GBE1, HSD3B7, INVS, JAG1, LIPA, MKS1, MPV17, MYO5B, NOTCH2, NPC1, NPC2, NPHP3, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKHD1, POLG, POLG2, RRM2B, SERPINA1, SLC25A13, TJP2, TRMU, VIPAS39, VPS33B
4 to 5 months
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
For other samples types, please contact the laboratory.