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 21 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, CTNNB1, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, 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.

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

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 PMS2 gene contains regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation.