GTR Test Accession:
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GTR000578465.1
Registered in GTR:
2020-05-19
View version history
GTR000578465.1,
registered in GTR:
2020-05-19
Last annual review date for the lab: 2024-11-15
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At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Oculopharyngeal muscular dystrophy
Genes (1):
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PABPN1 (14q11.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (diagnosis/ clinical suspition/ …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test Order Code:
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11684
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:
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
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
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Fragment analysis method for repeat analysis has greater than 95% analytical sensitivity, %99 analytical specificity.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.