Inborn Errors of Immunity Panel | NGS

Genes SequencedNext generation sequencing of all coding regions of 9 genes sequenced including FAS, JAK1, KRAS, NRAS, PIK3CD, PIK3R1, STAT5B, TLR8 and UBA1.
Test DetailsExtraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region on the Illumina platform. Identified variants previously described and other potentially pathogenic non-synonymous variants are reported with interpretations. This targeted hybrid capture-based test is designed to detect somatic single nucleotide variants, insertions and deletions (indels). At a mean depth of coverage of at least 4000x across the captured region, this test has 89.84% sensitivity for variants at a variant allelic fraction (VAF) of 1.25% and 99.48% for variants at a VAF of at least 2.5%.
MethodologyNext-generation sequencing
PerformedMonday – Friday
Turnaround3 weeks from receipt of specimen
Specimen RequirementsTissue from the affected area or peripheral blood.  Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.
Sample CollectionRoutine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue.
Fresh tissue placed in media (4 mm skin punch or tissue 4 mm in size).
Peripheral blood: 3-5 mls in a lavendar top EDTA tube.
Minimum Sample Volume 3 millimeters for tissue. 2 milliliters for peripheral blood.
Storage/Transport ConditionsFFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Fresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery.
Peripheral blood: Refrigerated (cold packs) for overnight delivery.
Unacceptable ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
CPT Code(s)81479