GTR Test Accession:
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GTR000194006.2
Last updated in GTR:
2014-12-03
View version history
GTR000194006.2,
last updated:
2014-12-03
GTR000194006.1,
registered in GTR:
2013-12-03
Last annual review date for the lab: 2021-10-21
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Spermatogenic failure, Y-linked, 2
Yq11.2
Genes (1):
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SRY (Yp11.2)
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Other
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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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
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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Informed consent required:
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Based on applicable state law
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,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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Genes
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Total genes: 1
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
Other
Other
Clinical Information
Test purpose:
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Diagnosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
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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Panel of 20 microsatellite loci spanning regions on Yq.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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100% Sensitivity
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Yes
Recommended fields not provided:
Test Confirmation,
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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Not provided
Additional Information
Clinical resources:
Molecular 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.