McCune Albright Syndrome | NGS
| Genes Sequenced | Next generation sequencing of all coding regions of 5 genes sequenced including GNAS, HRAS, KRAS, NF1 and NRAS. |
| 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%. |
| Methodology | Next Generation Sequencing |
| Performed | Monday – Friday |
| Turnaround | 3 weeks from receipt of specimen |
| Specimen Requirements | Tissue from the affected area. 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). |
| Minimum Sample Volume | 3 millimeters |
| 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. |
| Unacceptable Conditions | FFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable) |
| CPT Code(s) | 81479 |