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GTR Home > Tests > Oculopharyngeal muscular dystrophy

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


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 with 12 or more repeats (dominant OPMD). The polymerase chain reaction (PCR) amplification is used to determine the number of PABPN1 GCG repeats.


Not provided

Proficiency Testing (PT)

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FDA Regulatory Clearances of the Test


Not provided

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