Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion
GTR Test Accession: Help GTR000560841.2
Last updated in GTR: 2018-07-03
Last annual review date for the lab: 2023-06-19 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Oculopharyngeal muscular dystrophy
Genes (1): Help
PABPN1 (14q11.2)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Testing should be considered for patients presenting with clinical features …
Not provided
Not provided
Ordering Information
Offered by: Help
PreventionGenetics, part of Exact Sciences
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
How to Order: Help
Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 6058
Test additional service: Help
Custom Prenatal Testing
    OrderCode: 990
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
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
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
Testing should be considered for patients presenting with clinical features of oculopharyngeal muscular dystrophy (OPMD), including ptosis, dysphagia, and proximal limb muscle weakness. This test may also be considered for patients with a family history of OPMD. Patients of Bukharan Jewish descent with suspected OPMD as well as additional visual … View more
View citations (2)
  • Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. Newman H, et al. Invest Ophthalmol Vis Sci. 2016;57(13):5361-5371. doi:10.1167/iovs.16-19505. PMID: 27732723.
  • Braverman I, Blumen SC, Newman H, Rizel L, Khayat M, Hanna R, St Guily JL, Tiosano B, Ben-Yosef T. Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. Genet Test Mol Biomarkers. 2017;21(7):450-453. doi:10.1089/gtmb.2016.0429. Epub 2017 Jun 07. PMID: 28590779.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Please visit our website for details http://preventiongenetics.com/
Recommended fields not provided:
Technical Information
Test Procedure: Help
A combination of amplicon-length analysis and bidirectional Sanger sequencing is used as a screening method for the presence or absence of a pathogenic GCN trinucleotide repeat expansion located in the first exon of PABPN1 (Brais et al. 1998. PubMed ID: 9462747; Trollet et al. 2014. PubMed ID: 20301305).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
A total of sixty-three (41) samples were used for the test validation. These included: five DNA samples, 28 blood samples, two cell culture samples, one placental DNA sample, three saliva samples, and two buccal samples. Positive controls included one of the DNA samples and one of the cell culture samples, … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.

Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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.