PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test
Short Name: PABPN1 NGS Test
Also known as: OPMD Genetic Test, PABPN1 Repeat Expansion Analysis, PABPN1 Gene Mutation Test
PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) for PABPN1 gene, Repeat expansion analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after the sample is received at the laboratory. Reports will be available via online portal, email, and WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
This test is performed to confirm or rule out oculopharyngeal muscular dystrophy (OPMD) by identifying pathogenic variants or repeat expansions in the PABPN1 gene. It helps in differential diagnosis of neuromuscular disorders, predictive testing for at-risk family members, and genetic counselling for reproductive decision-making.
- Test Code
- 4355
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample is received at the laboratory. Reports will be available via online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS) for PABPN1 gene, Repeat expansion analysis
Sample Collection
No fasting required. A genetic counselling session is recommended before testing to review family history and informed consent. Please carry any previous medical records or family pedigree if available.
Method: Peripheral blood draw or FTA card spot sample
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in the arm, or an FTA card blood spot sample. The procedure is quick and minimally invasive.
Report Delivery
No special precautions are needed. You may resume normal activities immediately. The sample will be transported to our laboratory for analysis.
Timeline: 3 to 4 weeks after the sample is received at the laboratory. Reports will be available via online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
This test is performed to confirm or rule out oculopharyngeal muscular dystrophy (OPMD) by identifying pathogenic variants or repeat expansions in the PABPN1 gene. It helps in differential diagnosis of neuromuscular disorders, predictive testing for at-risk family members, and genetic counselling for reproductive decision-making.
How to Prepare
- Do not eat or fast; no special dietary requirements
- Inform the lab about any blood transfusions in the past 6 months
- For FTA card collection, ensure the card is properly dried and stored in the provided pouch
- Carry a valid government ID for sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling before testing is essential to understand the inheritance pattern and implications for family members and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled sample or mismatch with requisition form
- Hemolysed or clotted blood sample
- FTA card with insufficient blood spot
- Sample received in an unsealed or broken container
Understanding Your Results
Pathogenic variant or expanded repeat detected
A test result that identifies a pathogenic expansion in the PABPN1 gene confirms the diagnosis of OPMD. Genetic counselling is recommended for family members.
No pathogenic variant detected
No disease-causing mutation was found in the PABPN1 gene. Correlate with clinical symptoms; other forms of muscular dystrophy may be considered.
Variant of uncertain significance (VUS)
A genetic change was found, but its clinical significance is not yet known. Further family studies and additional testing may be needed.
Inconclusive result
Testing could not generate a definitive result. A repeat sample or alternative analysis method may be required.
Consult a neurologist or genetic specialist if you are experiencing symptoms such as drooping eyelids, difficulty swallowing, or muscle weakness, especially after age 40. Also consult if you have a family history of OPMD and are considering predictive testing.
Limitations
- ⚠This test is specific to PABPN1 gene and does not rule out other types of muscular dystrophy
- ⚠Large deletions/duplications may not be detected by standard NGS
- ⚠Results may be inconclusive in rare cases requiring additional testing
- ⚠Clinical correlation is essential; a negative result does not exclude OPMD if clinical suspicion remains
- ⚠Genetic variants of uncertain significance may require family studies
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the blood draw site
- ●Rare chance of infection with any blood draw, though negligible
- ●No radiation or high-risk procedures involved
Interfering Factors
- ●Recent blood transfusion from a donor with a different genotype
- ●Bone marrow transplantation leading to mixed DNA
- ●Sample contamination or degradation
- ●Improper labelling or handling of the sample
Compare With Similar Tests
| Test | PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test | DMD Gene Muscular Dystrophy NGS Test | LMNA Gene Muscular Dystrophy NGS Test | Myotonic Dystrophy Type 1 (DMPK) Genetic Test | Neuromuscular Disorder Comprehensive NGS Panel |
|---|---|---|---|---|---|
| Comparison | PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test |
Frequently Asked Questions
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