Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion
Use
This test is designed for individuals suspected of having Oculopharyngeal Muscular Dystrophy (OPMD), particularly those who exhibit relevant clinical features. It is especially pertinent for symptomatic individuals aged 40-60, those of French-Canadian or Bukharan Jewish descent, and those with a family history of OPMD. The test evaluates the presence of the PABPN1 GCN repeat expansion, which is known to cause the condition.
Special Instructions
For optimal test results, it is advised to follow standard specimen collection and shipping procedures as outlined in the PreventionGenetics TRF. Turnaround time may vary based on the sample type and processing conditions, with options for expedited STAT testing available for a surcharge. Contact PreventionGenetics for order placement and specific pre-test requirements.
Limitations
This assay specifically detects expansions in the PABPN1 GCN repeat region and may not identify other potential genetic abnormalities. False negatives may occur if the repeat expansion falls below the detection threshold, or due to technical issues such as sample degradation. As such, results should be interpreted in conjunction with clinical findings and family history. Testing has not been FDA cleared or approved and is not intended to diagnose other muscular dystrophies or genetic disorders.
Methodology
Other (Expansion Assay)
Biomarkers
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided