Invitae First Tier Population Screen
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000569471.1
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Last updated in GTR: 2019-11-01
Last annual review date for the lab: 2023-10-10 LinkOut
At a Glance
Screening
Hypercholesterolemia, autosomal dominant, type B; Breast-ovarian cancer, familial, susceptibility to, 1; Breast-ovarian cancer, familial, susceptibility to, 2; ...
APOB (2p24.1), BRCA1 (17q21.31), BRCA2 (13q13.1), EPCAM (2p21), LDLR (19p13.2), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Proactive genetic testing offers healthy adults without a strong personal …
Not provided
Not provided
Ordering Information
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
14001
How to Order: Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Informed consent required: Help
Decline to answer
Test strategy: Help
Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 11
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Target population: Help
Proactive genetic testing offers healthy adults without a strong personal or family history of disease an opportunity to learn about how their genes could potentially impact their health.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods. VUS will not be taken into consideration.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods.
Test Confirmation: Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations: Help
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.