GTR Test Accession:
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GTR000604210.1
Registered in GTR:
2023-03-19
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GTR000604210.1,
registered in GTR:
2023-03-19
Last annual review date for the lab: 2024-01-10
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At a Glance
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: RT-qPCR; ...
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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Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 115
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 142
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
RT-qPCR
Mutation scanning of select exons
PCR
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Screening
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 Comments:
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Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).
For individuals with two copies of the SMN1 gene, testing for the presence or absence of the variant c.*3+80T>G will be performed to help evaluate the risk of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of SMN1 are detected
For premutation carriers with 55-90 CGG repeats, reflex AGG analysis will be automatically performed and reported with the Fragile X results.
For individuals with two copies of the SMN1 gene, testing for the presence or absence of the variant c.*3+80T>G will be performed to help evaluate the risk of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of SMN1 are detected
For premutation carriers with 55-90 CGG repeats, reflex AGG analysis will be automatically performed and reported with the Fragile X results.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >98% for insertions/deletions between six and fifteen base pairs. SMN1: This test is greater than 99% sensitive for detecting the targeted mutation(s) specified. FMR1: The analytical sensitivity of this assay …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
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Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.