Oculopharyngeal muscular dystrophy
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000560786.1
Last updated in GTR: 2018-04-25
Last annual review date for the lab: 2023-07-20 LinkOut
At a Glance
Diagnosis; Predictive
Oculopharyngeal muscular dystrophy
Genes (1): Help
PABPN1 (14q11.2)
Molecular Genetics - Targeted variant analysis: Tetra-nucleotide repeat by PCR or Southern Blot
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
CHEO Genetics Diagnostic Laboratory
View lab's website
Test short name: Help
Specimen Source: Help
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
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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
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Tetra-nucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Oculopharyngeal muscular dystrophy has been shown to be associated with a short expansion of a GCG repeat in the PABPN1 gene in greater than 99% of individuals. Normal individuals have 10 or less repeats. Affected individuals have either two alleles of 11 repeats (recessive OPMD) or at least one allele … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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