Myotonic Dystrophy Type 2 Test
Short Name: DM2 Test
Also known as: Proximal Myotonic Myopathy, DM2
Myotonic Dystrophy Type 2 Test test available at DNA Labs India for ₹9,000. Uses PCR, Fragment Analysis on Whole blood samples. Results in Report delivered within 5 days of sample receipt at the laboratory.. 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 detect mutations in the CNBP gene associated with Myotonic Dystrophy Type 2 for diagnosis, genetic counseling, and family planning.
- Test Code
- 1286
- Price
- ₹9,000
- Sample Type
- Whole blood
- Result Time
- Report delivered within 5 days of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- PCR, Fragment Analysis
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and mandatory details are provided.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure via venipuncture. Inform the phlebotomist of any relevant medical history or anticoagulant use.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Avoid strenuous activity with the arm for a few hours.
Timeline: Report delivered within 5 days of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the CNBP gene associated with Myotonic Dystrophy Type 2 for diagnosis, genetic counseling, and family planning.
How to Prepare
- Complete and submit Form 20 prior to sample collection
- Collect 4 mL (minimum 2 mL) whole blood in a Lavender Top (EDTA) tube
- Ship the sample refrigerated; do not freeze
- Ensure proper labeling and packaging to avoid rejection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing for Myotonic Dystrophy Type 2 allows for timely symptom management, family planning, and genetic counseling to improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Missing or improperly filled Form 20
- Sample not refrigerated or frozen
- Incorrect sample type or container
Understanding Your Results
Mutation Detected
Confirms diagnosis of Myotonic Dystrophy Type 2. Genetic counseling is recommended for family planning and management.
No Mutation Detected
DM2 is unlikely based on genetic analysis. Clinical correlation and additional testing may be considered if symptoms persist.
Consult a healthcare provider if you experience symptoms such as muscle weakness, stiffness, myotonia, or have a family history of Myotonic Dystrophy Type 2.
Limitations
- ⚠Cannot detect all possible mutations in the CNBP gene
- ⚠May not identify asymptomatic carriers in all cases
- ⚠Requires correlation with clinical symptoms and family history
- ⚠Results should be interpreted by a genetic counselor or healthcare professional
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or fainting
- ●No significant long-term risks associated with the test
Interfering Factors
- ●Sample contamination
- ●Degraded or insufficient DNA
- ●Improper sample storage or transport
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | Myotonic Dystrophy Type 2 Test | Myotonic Dystrophy Type 1 Test | Genetic Panel for Neuromuscular Disorders | Creatine Kinase Test | Electromyography (EMG) | Muscle Biopsy Analysis |
|---|---|---|---|---|---|---|
| Comparison | Myotonic Dystrophy Type 2 Test | Different gene mutation (DMPK gene) and symptoms; both are genetic tests for dystrophy types. | Broader panel testing multiple genes; useful for differential diagnosis of muscle disorders. | Measures muscle enzyme levels; not specific for DM2 but can indicate muscle damage. | Assesses muscle electrical activity; helps detect myotonia but does not confirm genetic cause. | Direct examination of muscle tissue; can show structural changes but less specific than genetic testing. |
Frequently Asked Questions
What is Myotonic Dystrophy Type 2?
What are the common symptoms of DM2?
How is Myotonic Dystrophy Type 2 diagnosed?
What is the cost of the DM2 test in India?
Is the DM2 test covered by insurance?
How long does it take to get results for the DM2 test?
Is home collection available for the DM2 test?
What sample is required for the DM2 test?
Is fasting required before the DM2 test?
What does a positive DM2 test result mean?
Can Myotonic Dystrophy Type 2 be treated or cured?
How accurate is the genetic test for DM2?
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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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