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Neonatal intrahepatic cholestasis: gene panel

Speciality(ies) / Other Speciality(ies)

Gastroenterology

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

54

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

TAT

4 to 5 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.