Somatic Overgrowth Panel | NGS

Genes Sequenced49 genes sequenced: ACTB, AKT1, AKT2, AKT3, ARAF, BRAF, CCM2, CCND2, CDKN1C, DCHS1, EPHB4, FAT4, FGFR1, FGFR2, FLT4, GATA2, GJC2, GNA11, GNA14, GNAQ, HGF, HRAS, IDH1, IDH2, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP3K3, MET, MTOR, NF2, NRAS, PDGFRB, PIEZO1, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PRKACA, PTEN, PTPN14, RASA1, SMAD3, SMO, TEK, TSC1 and TSC2.
Test DetailsThis 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%. Identified variants classified using ACMG/AMP, ClinGen and internally developed guidelines.
MethodologyNext Generation Sequencing
PerformedMonday – Friday
Turnaround3 weeks
Specimen RequirementsFresh or Formalin fixed paraffin embedded tissue from the affected area.
Sample CollectionFresh tissue placed in media (4 mm skin punch or tissue 4 mm in size).
Routine Tissue Block: One (1) formalin fixed paraffin embedded (FFPE) block or 15 unstained slides with matched H&E slide.
Minimum Sample Volume 3 millimeters
Storage/Transport ConditionsFresh tissue: Refrigerated temperature (cold packs). Please ship in media for overnight delivery.
FFPE blocks: ambient /room temperature. Place in a sealed container (bag). Place primary container in a padded envelope for overnight delivery. In seasonal warmer weather, include cold pack
Unacceptable ConditionsFFPE specimens processed using acid decalcification are not acceptable (EDTA is acceptable)
CPT Code(s)81479