|Genes Sequenced||Next generation sequencing of all coding regions of 9 genes sequenced including FAS, JAK1, KRAS, NRAS, PIK3CD, PIK3R1, STAT5B, TLR8 and UBA1.|
|Test Details||Extraction 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%.|
|Performed||Monday – Friday|
|Turnaround||3 weeks from receipt of specimen|
|Specimen Requirements||Tissue from the affected area or peripheral blood. Formalin fixed paraffin embedded affected tissue or fresh affected tissue in transport or tissue culture media.|
|Sample Collection||Routine 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 Conditions||FFPE 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 Conditions||FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)|