Nx Gen Sequencing: Ophthalmoplegia Test
Short Name: Ophthalmoplegia Genetic Test
Nx Gen Sequencing: Ophthalmoplegia Test test available at DNA Labs India for ₹28,665. Uses NGS, Sanger sequencing on Whole Blood samples. Results in Results are available in 45 working days from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of Nx Gen Sequencing for Ophthalmoplegia is to identify genetic mutations in genes such as C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, and TYMP that are associated with eye muscle weakness. This helps in confirming a diagnosis, understanding the genetic basis of the condition, and guiding personalized treatment approaches.
- Test Code
- 1347
- Price
- ₹28,665
- Sample Type
- Whole Blood
- Result Time
- Results are available in 45 working days from sample receipt.
- Fasting Required
- No
- Method
- NGS, Sanger sequencing
Sample Collection
Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. Provide medical history and symptoms to the healthcare provider.
Method: Venipuncture
Laboratory Analysis
Blood sample is collected via venipuncture from two Lavender Top (EDTA) tubes with a minimum volume of 5 mL.
Report Delivery
Ship the sample refrigerated. Do not freeze. Ensure proper labeling and documentation.
Timeline: Results are available in 45 working days from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Nx Gen Sequencing for Ophthalmoplegia is to identify genetic mutations in genes such as C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, and TYMP that are associated with eye muscle weakness. This helps in confirming a diagnosis, understanding the genetic basis of the condition, and guiding personalized treatment approaches.
How to Prepare
- Submit 10 mL whole blood from 2 Lavender Top (EDTA) tubes
- Ship refrigerated, do not freeze
- Ensure consent form is filled and signed
- Sample should reach lab within stability time
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing like Nx Gen Sequencing can identify specific mutations causing ophthalmoplegia, enabling personalized treatment plans and better symptom management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample not refrigerated or frozen
- Insufficient sample volume
- Missing or incomplete consent form
- Contaminated or hemolyzed sample
Understanding Your Results
Positive for pathogenic variant
Genetic mutation detected in one or more genes, associated with ophthalmoplegia. Consult a geneticist or ophthalmologist for further evaluation and management.
Negative for pathogenic variant
No pathogenic variants detected in the analyzed genes. Ophthalmoplegia may still be present due to other genetic or non-genetic causes. Clinical assessment recommended.
If experiencing symptoms like double vision, drooping eyelids, or difficulty moving eyes, consult an ophthalmologist or neurologist. Also seek genetic counseling if family history of ophthalmoplegia exists.
Limitations
- ⚠May not detect all genetic mutations
- ⚠Requires mandatory consent form
- ⚠Not a standalone diagnostic tool; clinical correlation needed
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Rare risk of infection
- ●Fainting or dizziness in some individuals
Interfering Factors
- ●Improper sample storage
- ●Contaminated sample
- ●Delayed processing
Compare With Similar Tests
| Test | Nx Gen Sequencing: Ophthalmoplegia Test | MRI Brain | CT Scan Head | Electromyography (EMG) | Ophthalmological Examination |
|---|---|---|---|---|---|
| Comparison | Nx Gen Sequencing: Ophthalmoplegia Test | Imaging test to detect structural abnormalities, while genetic test identifies DNA mutations. | Provides detailed images of bones and tissues, complementary to genetic testing for comprehensive diagnosis. | Assesses muscle and nerve function, useful alongside genetic testing to evaluate eye muscle weakness. | Direct evaluation of eye movements and vision, often the first step before genetic testing. |
Frequently Asked Questions
What is Ophthalmoplegia?
What is Nx Gen Sequencing?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is home sample collection available?
What genes are tested in this test?
Who should consider this test?
What are the symptoms of ophthalmoplegia?
How can this test help in treatment?
Is fasting required for the test?
What should I do before the test?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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