Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000204881.3
Last updated in GTR: 2014-11-18
View version history
GTR000204881.3, last updated: 2014-11-18
GTR000204881.2, last updated: 2013-11-27
GTR000204881.1, last updated: 2013-11-27
Last annual review date for the lab: 2023-07-31
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At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Prader-Willi syndrome
Genes (1):
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SNRPN (15q11.2)
Methods (1):
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Molecular Genetics - Methylation analysis: PCR on sodium bisulfite treated DNA
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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Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
View lab's website
View lab's test page
Test short name:
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PWS
Lab contact:
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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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Test development:
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Test developed by laboratory (no manufacturer test name)
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,
Specimen source,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
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 *
Methylation analysis
PCR on sodium bisulfite treated DNA
* Instrument: Not provided
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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A maternal-only pattern is 100% diagnostic of PWS.
Assay limitations:
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Additional studies including fluorescent in situ hybridization (FISH) to identify large gene deletions and uniparental disomy (UPD) analysis should be considered to determine the specific genetic etiology of the disorder for genetic counseling purposes.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Yes
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
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.