GTR Test Accession:
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GTR000551708.4
NYS CLEP
Last updated in GTR: 2022-01-13
View version history
GTR000551708.4, last updated: 2022-01-13
GTR000551708.3, last updated: 2021-10-12
GTR000551708.2, last updated: 2016-09-08
GTR000551708.1, last updated: 2016-08-24
Last annual review date for the lab: 2023-10-10
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At a Glance
Test purpose:
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Diagnosis
Conditions (137):
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X-linked sideroblastic anemia with ataxia;
3-methylglutaconic aciduria type 8;
3-methylglutaconic aciduria type 9
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Genes (85):
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Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The Invitae Bone Marrow Failure Syndromes Panel analyzes genes that …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Physician Assistant
Test Order Code:
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05301
How to Order:
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Tests can be ordered online or by submitting a paper requisition form.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Based on applicable state law
Test strategy:
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Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Contact policy
Conditions
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Total conditions: 137
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 85
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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The Invitae Bone Marrow Failure Syndromes Panel analyzes genes that are associated with bone marrow failure (BMF), a condition in which the body is unable to produce enough healthy blood cells. The genetic heterogeneity associated with BMF syndromes can make it difficult to use phenotype as the sole criterion to …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
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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 …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
8884
Status: Approved
Status: Approved
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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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.