Maffucci Syndrome Gene Set | NGS

Genes Sequenced IDH1, IDH2
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 segmental overgrowth and related syndromes and other potentially pathogenic non-synonymous variants are reported with interpretations.
Methodology Next-generation sequencing
Performed Monday – Friday
Turnaround 6 – 8 weeks
Specimen Requirements Formalin fixed paraffin embedded affected tissue; fresh affected tissue in transport or tissue culture media; buccal swab; peripheral blood.
Sample Collection Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block containing affected tissue. 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. Recommend shipping by overnight. In seasonal warmer weather, include cold pack (DO NOT FREEZE).; Blood: 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 (DO NOT FREEZE).
Unacceptable Conditions Prior acid decalcification (EDTA is acceptable)
CPT Code(s)  81406