Nevus Gene Set | NGS
| Genes Sequenced | BRAF, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, KRAS, MAP3K3, NRAS, PIK3CA and TEK |
| Test Details | Extraction of DNA, capture of the genes to be assayed, and sequencing of the entire coding region and select introns on the Illumina platform. Identified variants previously described in Schimmelpenning-Feuerstein-Mims and related syndromes and other potentially pathogenic non-synonymous variants are reported with interpretations. |
| Methodology | Next-generation sequencing |
| Performed | Monday – Friday |
| Turnaround | 3 – 4 weeks |
| Specimen Requirements | Primary specimen: Affected tissue in fresh or FFPE form or buccal swab (please call the laboratory prior to sending buccal swabs). Secondary specimen: Peripheral blood. |
| Sample Collection | Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. Fresh Tissue: Minimum of 4 mm of affected tissue in tissue culture or transport media. Buccal Swabs: 2-4 buccal swabs (please call lab before sending). Peripheral Blood: One (1) EDTA (lavender top) tube containing 2-5 mL. |
| Minimum Sample Volume | NULL |
| Storage/Transport Conditions | FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope. In seasonal warmer weather, include cold pack with shipment (DO NOT FREEZE). Recommend shipping for overnight delivery. Fresh tissue: please place in tissue culture or transport media and ship refrigerated (cold packs). Overnight shipping required. Blood/Buccal swabs: Ambient/room temperature preferred. However, if delivery/shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery/shipment by overnight delivery. In seasonal warmer weather, include cold pack with shipment (DO NOT FREEZE). |
| Unacceptable Conditions | Prior acid decalcification (EDTA is acceptable) |
| CPT Code(s) | 81479 |