GTR Test Accession:
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GTR000552643.3
Last updated in GTR: 2018-07-26
View version history
GTR000552643.3, last updated: 2018-07-26
GTR000552643.2, last updated: 2017-12-22
GTR000552643.1, last updated: 2017-01-24
Last annual review date for the lab: 2023-12-29
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At a Glance
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
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
- Health Care Provider
Test Order Code:
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GA0501
View other test codes
View other test codes
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Choose the preferred way to order:
1) Online ordering: place the order in Nucleus.
2) PDF ordering: download a form, fill in and mail.
3) Sample kit: use Blueprint Kit with sample tube, requisition form and prepaid return.
Order URL
1) Online ordering: place the order in Nucleus.
2) PDF ordering: download a form, fill in and mail.
3) Sample kit: use Blueprint Kit with sample tube, requisition form and prepaid return.
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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No
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,
Test strategy
Conditions
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Total conditions: 8
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 46
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina Novaseq
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina Novaseq
Clinical Information
Test purpose:
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Diagnosis
Variant Interpretation:
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,
Target population,
What is the protocol for interpreting a variation as a VUS?,
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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https://blueprintgenetics.com/methods-and-services/
Test Confirmation:
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Blueprint Genetics confirms all pathogenic or likely pathogenic mutations using Sanger capillary sequencing or qPCR.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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All NGS Panels provided by Blueprint Genetics are sliced from custom high-quality whole exome sequencing assay (xGen Exome Research Panel, IDT). Panels cover all coding exons, exon-intron boundaries (± 20 bps) and selected non-coding, deep intronic variants of the genes included in the panel unless otherwise stated in the panel …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
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:
Not Applicable
Additional Information
Clinical resources:
Practice guidelines:
Consumer resources:
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.