Invitae Broad Carrier Screen
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000569391.3
NYS CLEP
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2023-10-09
Last annual review date for the lab: 2023-10-10 LinkOut
At a Glance
Screening
Werdnig-Hoffmann disease; 46,XY sex reversal 2; Achondrogenesis, type IB more...
ABCA3 (16p13.3); ABCC8 (11p15.1); ABCD1 (Xq28); ACADM (1p31.1); ACADVL (17p13.1) more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
The Invitae Broad Carrier Screen includes select genes associated with …
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
60101
How to Order: Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 224
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 112
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
The Invitae Broad Carrier Screen includes select genes associated with disorders that may have a severe presentation and are prevalent across ethnicities. This screen is not intended for diagnostic use.
Recommended fields not provided:
Technical Information
Test Procedure: 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 and 10 to 20 base pairs of adjacent intronic … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 8884
Status: Approved
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.