Expedio Hereditary Cancer Predisposition Screening Assay
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000604264.1
Last updated in GTR: 2023-04-04
Last annual review date for the lab: 2023-11-09 LinkOut
At a Glance
Risk Assessment; Screening
Breast cancer, susceptibility to; APC-related attenuated familial adenomatous polyposis; Ataxia-telangiectasia syndrome; ...
APC (5q22.2), ATM (11q22.3), BARD1 (2q35), BMPR1A (10q23.2), BRCA1 (17q21.31), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Anyone over the age of 19 who is at an …
A total of 5,388 patients were tested with the Assay …
Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
Lab contact: Help
Troy Moore, Scientific Director
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Samples are typically accepted as dry buccal swabs, saliva, or blood; for additional sample types please contact the laboratory.

Samples are accepted Mon-Fri, for weekend and holiday sample acceptance please contact the laboratory
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Test strategy: Help
Screening of individuals with a family history or diagnosis of a heritable form of cancer.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Conditions Help
Total conditions: 40
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 31
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq
Clinical Information
Test purpose: Help
Risk Assessment; Screening
Clinical validity: Help
A total of 5,388 patients were tested with the Assay and as expected by the prevalence of P/LP variants in the general population, 95.8% of the participant’s results were negative for pathogenic/likely pathogenic variants. Of the 4.2% (226) of patients identified with variants classified as pathogenic/likely pathogenic, the variants were … View more
Clinical utility: Help
Predictive risk information for patient and/or family members
View citations (3)
  • Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. Provenzale D, et al. J Natl Compr Canc Netw. 2016;14(8):1010-30. doi:10.6004/jnccn.2016.0108. PMID: 27496117.
  • Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML, , Karlan BY, Khan S, Klein C, Kohlmann W, , Kurian AW, Laronga C, Litton JK, Mak JS, , Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G, , Senter-Jamieson L, , Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102. doi:10.6004/jnccn.2021.0001. Epub 2021 Jan 06. PMID: 33406487.
  • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Kidney Cancer V.3.23

Target population: Help
Anyone over the age of 19 who is at an elevated genetic risk for cancer or has a personal history of cancer, by testing for the presence of germline mutations in a cohort of genes known to be associated with the initiation or progression of a variety of human cancers.
Recommended fields not provided:
Technical Information
Test Procedure: Help
The Cancer Screening Panel uses state-of-the-art sequencing technology to provide high quality results. Genomic DNA is extracted from dry buccal swabs using magnetic particle processing. DNA from patient samples are amplified with primers specific for the targeted regions using Oligo Directed Patch PCR (Varley, et. al.). Positive and negative controls … View more
Test Platform:
None/not applicable
Test Confirmation: Help
Positive results are confirmed using NGS sequencing.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity, Specificity, Positive Predictive Value and Accuracy of the Assay were evaluated through comparison of the Assay calls to the “high-confidence” reference sequence in well-characterized Genome-In-A-Bottle samples: NA12878, NA24631, NA24385*, NA24143*, NA24149* [*Trio: Son, Mother, Father]. Each sample was tested in triplicate on three different runs resulting in 9 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
31/33 genes tested by the assay are CAP's Next-Generation Sequencing (NGS)-Germline Survey. The remaining 2 genes are tested by in-house methods.
Software used to interpret novel variations Help
Proprietary internal software, SIFT, PolyPhen

Laboratory's policy on reporting novel variations Help
Not reported
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.