Autoimmune lymphoproliferative syndrome (ALPS): gene panel
Speciality(ies) / Other Speciality(ies)
Immune System Diseases
Pediatrics, Immunodeficiencies, Reumatology
Methodology
NGS, with CNVs analysis
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
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.