Vascular Anomalies Panel | NGS

Genes Sequenced65 genes sequenced: ACVRL1, ARAF, BRAF, CCBE1, CCM2, CELSR1, CLDN14, CTNNB1, DCHS1, ELMO2, ENG, EPHB4, FAT4, FGFR1, FLT4, FOXC2, GATA2, GDF2, GJA4, GJC2, GLMN, GNA11, GNA14, GNAQ, GNAS, HGF, HRAS, IDH1, IDH2, KDR, KEL, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP2K2, MAP3K3, MET, MTOR, NF1, NRAS, PDCD10, PDGFRB, PIEZO1, PIK3CA, PIK3R1, PIK3R2, PRKACA, PTEN, PTPN11, PTPN14, RASA1, RHOA, SHOC2, SMAD4, SMO, SOS1, SOX18, SPRED1, STAMBP, TEK, TSC1, TSC2 and VEGFC.
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