Invitae First Tier Population Screen - Clinical Genetic Test - GTR

Genetic Testing Registry

View Advanced Search Options

Classic view of this page

Invitae First Tier Population Screen

Clinical Genetic Test

offered by

Labcorp Genetics (formerly Invitae)

View lab's test page

GTR Test Accession: GTR000569471.1

INHERITED DISEASEMETABOLIC DISEASECANCER ... View more

Registered in GTR: 2019-11-01

Last annual review date for the lab: 2023-10-10 Past due

At a Glance

Test purpose:

Screening

Conditions (10):

Hypercholesterolemia, autosomal dominant, type B; Breast-ovarian cancer, familial, susceptibility to, 1; Breast-ovarian cancer, familial, susceptibility to, 2 more...

Genes (11):

APOB (2p24.1); BRCA1 (17q21.31); BRCA2 (13q13.1); EPCAM (2p21); LDLR (19p13.2) more...

Methods (2):

Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...

Target population:

Proactive genetic testing offers healthy adults without a strong personal …

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Labcorp Genetics (formerly Invitae)
View lab's website
View lab's test page

Specimen Source:

Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician
Nurse Practitioner
Physician Assistant
Registered Nurse

Test Order Code:

14001

How to Order:

Tests can be ordered online or by submitting a paper requisition form.
Order URL

Informed consent required:

Decline to answer

Test strategy:

Full gene sequencing and deletion/duplication analysis of targeted gene

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Lab contact for this test, Contact policy, Test development

Conditions

Total conditions: 10

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 11

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 2

Method Category

Test method

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:

Screening

Target population:

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?
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?
Not provided.

Recommended fields not provided:

Clinical validity, Clinical utility, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods.

Test Confirmation:

Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods.

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.

View citations (1)

https://www.invitae.com/en/physician/tests/14001/#info-panel-references

Assay limitations:

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 … 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 the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome. View more

Proficiency testing (PT):

Is proficiency testing performed for this test?
No

Recommended fields not provided:

Citations to support assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Not provided

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View APOB variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Practice guidelines:

ACMG ACT, 2019

CSANZ, 2016

Consumer resources:

MalaCards

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.