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Autoimmune lymphoproliferative syndrome (ALPS): gene panel

Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Pediatrics, Immunodeficiencies, Reumatology

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

19

Test / Mutation List

ADA2, AICDA, CASP10, CASP8, CD40LG, CTLA4, FADD, FAS, FASLG, ITK, KRAS, LRBA, MAGT1, NRAS, PRKCD, RASGRP1, SH2D1A, STAT3, WAS

TAT

3 to 4 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.