SPEG Gene Centronuclear Myopathy Type 5 NGS Genetic Test
Short Name: SPEG Gene CNM5 NGS Test
Also known as: Centronuclear Myopathy Type 5, CNM5, SPEG-Related Myopathy
SPEG Gene Centronuclear Myopathy Type 5 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 3 to 4 weeks. 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
To identify pathogenic mutations in the SPEG gene for definitive diagnosis of centronuclear myopathy type 5, facilitating personalized medical management and genetic counseling.
- Test Code
- 1539
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Provide clinical history and family pedigree during genetic counseling.
Method: Venipuncture
Laboratory Analysis
Blood sample is drawn via venipuncture from a vein in the arm. Alternatively, extracted DNA or a blood drop on FTA card is used.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Monitor for any signs of infection or hematoma.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the SPEG gene for definitive diagnosis of centronuclear myopathy type 5, facilitating personalized medical management and genetic counseling.
How to Prepare
- Schedule a home collection or visit a walk-in center
- Ensure sample is labeled correctly with patient details
- Transport sample at ambient temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for confirming SPEG gene mutations in suspected centronuclear myopathy, enabling targeted management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Sample collected in non-approved containers
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of SPEG gene centronuclear myopathy type 5. Genetic counseling recommended.
Likely pathogenic variant detected
Suggests high probability of CNM5. Further clinical correlation advised.
Variant of uncertain significance
Genetic variant identified but clinical significance unknown. Additional testing or family studies may be needed.
No pathogenic variant detected
No SPEG gene mutations found. Does not rule out other genetic causes of myopathy.
Consult a neurologist or geneticist immediately after receiving positive results for management planning. Seek genetic counseling for family implications and consider testing for at-risk relatives.
Limitations
- ⚠May not detect all types of genetic variants (e.g., large deletions)
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Cannot rule out other genetic causes of myopathy
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for incidental findings unrelated to CNM5
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Use of anticoagulants other than EDTA
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | SPEG Gene Centronuclear Myopathy Type 5 NGS Genetic Test | MTM1 Gene Centronuclear Myopathy NGS Test | DNM2 Gene Centronuclear Myopathy NGS Test | General Myopathy Genetic Panel |
|---|---|---|---|---|
| Comparison | SPEG Gene Centronuclear Myopathy Type 5 NGS Genetic Test |
Frequently Asked Questions
What is SPEG gene centronuclear myopathy type 5?
How is the SPEG gene CNM5 test performed?
What is the cost of the SPEG gene CNM5 NGS genetic test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What are the symptoms of SPEG gene CNM5?
Who should consider getting this genetic test?
Is genetic counseling required before the test?
What does a positive test result mean?
Are there any risks associated with the test?
How accurate is the NGS genetic test for CNM5?
What other tests are related to centronuclear myopathy?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.