Neonatal intrahepatic cholestasis: gene panel
Speciality(ies) / Other Speciality(ies)
Gastroenterology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
58
Test / Mutation List
ABCB11, ABCB4, ABCC2, ADK, AKR1D1, ALDOB, ATP7B, ATP8B1, BAAT, CC2D2A, CFTR, CLDN1, COG7, CYP27A1, CYP7B1, DCDC2, DGUOK, FAH, GALE, GALK1, GALM, GALT, GBA, GBE1, HADHA, HNF1B, HSD3B7, INVS, JAG1, LIPA, MPI, MPV17, MVK, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PKHD1, POLG, SLC25A13, SMPD1, TALDO1, TJP2, TRMU, UGT1A1, VIPAS39, VPS33B
TAT
2 to 3 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.