Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (Oculopharyngeal muscular dystrophy) … see more Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (Oculopharyngeal muscular dystrophy) (Prenatal)(Repeat Analysis)  see less
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000578465.1
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Registered in GTR: 2020-05-19
Last annual review date for the lab: 2024-11-15 LinkOut
At a Glance
Diagnosis
Oculopharyngeal muscular dystrophy
Genes (1): Help
PABPN1 (14q11.2)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (diagnosis/ clinical suspition/ …
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
11684
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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