POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic Test
Short Name: POMK MEB NGS Test
Also known as: POMK Gene NGS Test, MEB POMK Mutation Analysis, Muscle-eye-brain disease POMK Genetic Test
POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally delivered within 3 to 4 weeks from the date of sample receipt.. 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
The purpose of this NGS genetic test is to detect disease-causing variants in the POMK gene and establish a molecular diagnosis of POMK-related muscle-eye-brain disease. The result is intended to support clinical management, genetic counseling, and family risk assessment.
- Test Code
- 4343
- CPT Code
- N/A
- ICD Code
- N/A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. The patient should carry any available clinical records, MRI reports, or previous genetic evaluation documents. Genetic counseling is recommended before the test.
Method: Peripheral blood draw, FTA card spot, or DNA submission
Laboratory Analysis
A qualified phlebotomist will collect a small amount of peripheral blood in an EDTA vacutainer. If an FTA card is used, one drop of blood is applied to the marked area and allowed to air dry. The procedure takes only a few minutes.
Report Delivery
No additional precautions are needed. You can resume normal activities immediately. The collected sample will be transported to the laboratory under controlled conditions.
Timeline: Reports are generally delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing variants in the POMK gene and establish a molecular diagnosis of POMK-related muscle-eye-brain disease. The result is intended to support clinical management, genetic counseling, and family risk assessment.
How to Prepare
- No fasting is required before sample collection.
- Use an EDTA vacutainer for whole blood collection.
- If using an FTA card, apply one drop of blood onto each marked circle and allow it to air dry completely.
- Label the sample with patient name, date of birth, and date of collection.
- Transport samples at room temperature in appropriate packaging.
- Extracted DNA samples should be stored at -20°C until shipment.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"POMK-related muscle-eye-brain disease follows autosomal recessive inheritance. Genetic counseling helps families understand recurrence risk and available reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood specimen
- Insufficient DNA quantity
- Improperly labeled or unidentified sample
- Sample received in a broken or leaking container
- FTA card with dirty or smeared blood
Understanding Your Results
Confirms a molecular diagnosis of POMK-related muscle-eye-brain disease. Genetic counseling and testing of at-risk family members are recommended.
Result type: Positive - pathogenic variant identified
Does not exclude the clinical diagnosis of muscle-eye-brain disease. Other genetic or non-genetic causes should be considered by the treating physician.
Result type: Negative - no pathogenic variant identified
The clinical significance of the reported variant is currently unclear. Additional family studies and further evaluation may help reclassify the variant.
Result type: Variant of uncertain significance (VUS)
Consult a neurologist or clinical geneticist if you or your child have unexplained muscle weakness, hypotonia, developmental delay, visual impairment, or brain imaging findings suggestive of MEB. Genetic counseling should also be obtained before and after the test.
Limitations
- ⚠Targeted POMK NGS may not detect deep intronic variants, large deletions or duplications, or structural rearrangements.
- ⚠Variants of uncertain significance may be reported and require additional family studies.
- ⚠A negative result does not exclude other genetic causes of muscle-eye-brain disease or congenital muscular dystrophy.
- ⚠This test is not intended as a standalone screening test in asymptomatic individuals.
Risks & Considerations
- ●Minimal pain or bruising at the blood collection site
- ●Rare bleeding or infection at the venipuncture site
- ●Potential psychological impact of genetic test results
Interfering Factors
- ●Low-quality or degraded DNA sample
- ●Incomplete clinical information
- ●Variant types not covered by targeted NGS, such as deep intronic variants or structural rearrangements
- ●Sample label mix-up or contamination
Compare With Similar Tests
| Test | POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic Test | POMK Gene Targeted NGS Test | Congenital Muscular Dystrophy NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic Test |
Frequently Asked Questions
What is the cost of the POMK gene muscle-eye-brain disease NGS genetic test?
What does this NGS genetic test detect?
Who should consider this test?
What is muscle-eye-brain disease?
What sample is accepted for this test?
Is fasting required before the test?
When will I receive my reports?
Does DNA Labs India share raw genetic data?
Is genetic counseling necessary before this test?
What does a negative result mean?
Can this test detect all muscle-eye-brain disease cases?
Is home sample collection available for this 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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✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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