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Renal lithiasis: gene panel

Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM
Gene Number

30

Test / Mutation List

ADCY10, AGXT, AP2S1, APRT, ATP6V0A4, ATP6V1B1, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1

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.