Invitae Core Carrier Screen
GTR Test Accession: Help GTR000569390.3
INHERITED DISEASESYNDROMIC DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2019-11-01
Last annual review date for the lab: 2023-10-10 Past due LinkOut
At a Glance
Screening
Usher syndrome type 2A; Cystic fibrosis; Fragile X syndrome more...
Genes (7): Help
CFTR (7q31.2); FMR1 (Xq27.3); HBA1 (16p13.3); HBA2 (16p13.3); HBB (11p15.4) more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Carrier screening can provide important information for people who: are …
Not provided
Not provided
Ordering Information
Offered by: Help
Labcorp Genetics (formerly Invitae)
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
60102
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: 6
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
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
Carrier screening can provide important information for people who: are currently pregnant or planning a pregnancy, are at increased risk for a specific disorder based on their ethnicity, have a family history of a genetic disorder, planning to donate eggs, sperm, or embryos, would like additional information about the reproductive … View more
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
Yes.
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
View citations (1)
  • https://www..com/en/physician/tests/60102/#info-panel-assay_information
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.