Expedio Hereditary Cancer Predisposition Screening Assay
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000604264.1
- Last updated: 2023-11-09
- Test version history
- 604264.1, last updated: 2023-11-09
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Breast cancer, susceptibility to
Offered by Kailos Genetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Expedio Hereditary Cancer Predisposition Screening Assay (Expedio)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Risk Assessment, Screening
Click Indication tab for more information.
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 HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.kailosgenetics.com/kailos-lab/expediotm-hereditary-cancer-risk-testing
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NextSeq
- None/not applicable
Predictive risk information for patient and/or family members
- Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. - PubMed ID: 27496117
- Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. - PubMed ID: 33406487
- NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Kidney Cancer V.3.23
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.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 identified in twenty-four unique genes. Additionally, 6 patients possessed two p/lp variants. Slightly greater than 5% of those participants with strong family or personal histories were identified as having P/LP variants. Of the 3,027 participants with no, not strong or unknown family histories, P/LP variants were identified in 125 (4%). In both cases, these participants were introduced to a genetic counselor for furtherance of their care and guidance as to whether or not family members should be tested. The Expedio Hereditary Cancer Predisposition Screening Assay is shown to meet the high thresholds for analytical performance necessary to produce the accurate and reliable results required in clinical care. Additionally, it is shown that hereditary cancer produces a significant burden on families and healthcare systems with genes associated with hereditary cancer, specifically hereditary breast and ovarian cancer and Lynch syndrome genes, are well studied and have management guidelines to avoid or reduce the significant lifetime cancer risk. Finally, identifying a hereditary cancer syndrome in one patient can lead to further testing of relatives allowing for increased opportunity for personalized screening and preventative surgeries throughout a family. In summary, the Expedio Hereditary Cancer Predisposition Screening Assay is a robust laboratory developed test that aids in the identification and management of patient care.
Citations
Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.Screening of individuals with a family history or diagnosis of a heritable form of cancer. 000 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
- NICE, 2019UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2019
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.