OncoAlly® Hereditary Colorectal Cancer Analysis

OA013

OncoAlly® Hereditary Colorectal Cancer Analysis is a diagnostic test designed to identify genetic variants associated with hereditary colorectal cancer.

Test Description

OncoAlly® Hereditary Colorectal Cancer Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 26 genes associated with hereditary colorectal cancer.

For the set of targeted genes, OncoAlly® Hereditary Colorectal Cancer Analysis sequences and analyzes the entire gene. In comparison, most other hereditary cancer tests only sequence and analyze targeted regions of the gene, typically exons and selected intronic regions.

Having the full gene sequence allows us to detect all clinically relevant variant types with high specificity and sensitivity, including deletions, duplications, insertions and inversions of any size.

When to Order

Order this test when:

  • A patient has a personal history of colorectal cancer.
  • A patient has a medical or family history suggestive of hereditary colorectal cancer predisposition.
  • Germline variant analysis for hereditary colorectal cancer predisposition is necessary to guide medical management.

Included Genes

APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, FOCAD, GALNT12, GREM1, MBD4, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43 , RPS20, SMAD4, STK11, TP53

View a list of cancers associated with each gene.

Included Analyses

  • Sequence analysis of hereditary colorectal cancer-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of hereditary colorectal cancer-associated genes including: duplications/deletions, mobile element insertions, and inversions.

    Turnaround Time

    A report will be issued within 2-4 weeks from receipt of required samples. Turnaround time begins when samples and all required documents and approvals are received.

    Sample Types

    CPT Codes

    81435, 81436

    The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

    Methods and Limitations

    OncoAlly® Hereditary Colorectal Cancer Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

    SNVs:
    99.9% sensitivity
    100% specificity
    99.8% positive predictive value

    Structural variants:
    96% clinical sensitivity

    Test limitations:
    The following gene has regions that are not unique: PMS2 (exons 13-15). Therefore, there may be variants in this gene that cannot be assigned to the correct location and limit the interpretation.