Cancer

Clinical Indications

Consider testing for individuals with early-onset cancer (generally diagnosed before age 50), multiple primary cancers, a rare or unusual tumor type, a strong family history of cancer across multiple relatives, or a known hereditary cancer syndrome in the family. Testing may also be appropriate when results could affect treatment decisions, such as targeted therapy eligibility.

Scope / Genes Tested

AIP, ALK, APC, ATM, ATRIP, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CFTR, CHEK2, CPA1, CTRC, CTNNA1, DDX41, DICER1, EGFR, EGLN1, EPCAM, ETV6, FH, FLCN, GATA2, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PALLD, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RET, RNF43, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1

Test Details

• Specimen Source: Buccal (cheek) swab
• Sequencing Technology: Whole Exome Sequencing

Analytical Performance

This test detects >99.5% of described mutations in the targeted genes, including single nucleotide variants, small insertions and deletions, and multi-exon copy number changes.

Clinical Utility

A positive result identifies an inherited cancer predisposition, which can help guide how often and what type of screening is recommended, inform risk-reduction options, determine eligibility for targeted therapies, and identify family members who may carry the same variant and benefit from their own evaluation.