Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000500845.4
NYS CLEP
Last updated in GTR: 2023-07-31
View version history
GTR000500845.4, last updated: 2023-07-31
GTR000500845.3, last updated: 2023-07-17
GTR000500845.2, last updated: 2016-09-20
GTR000500845.1, last updated: 2013-12-02
Last annual review date for the lab: 2024-07-12
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At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (1):
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Spongy degeneration of central nervous system
Genes (1):
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ASPA (17p13.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Detection Primer Extension
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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- Amniotic fluid
- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
Test Order Code:
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51453
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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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:
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
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 *
Targeted variant analysis
Detection Primer Extension
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Screening
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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Analytical sensitivity and specificity greater than 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
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
NYS CLEP Approval:
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Number:
4196
Status: Approved
Status: Approved
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.