Myotonic Dystrophy Comprehensive Profile Test
Short Name: MD Comprehensive Profile
Also known as: DM Test, DMPK Gene Test, Myotonic Dystrophy Genetic Test
Myotonic Dystrophy Comprehensive Profile Test test available at DNA Labs India for ₹11,000. Uses PCR, Fragment Analysis on Whole blood samples. Results in Reports are typically available by Friday if sample is collected by Monday 11 am.. 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 diagnose myotonic dystrophy by detecting mutations in the DMPK and ZFN9 genes, aiding in accurate diagnosis, treatment planning, and genetic counseling.
- Test Code
- 1285
- Price
- ₹11,000
- Sample Type
- Whole blood
- Result Time
- Reports are typically available by Friday if sample is collected by Monday 11 am.
- Fasting Required
- No
- Method
- PCR, Fragment Analysis
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting required, but avoid strenuous exercise before sample collection.
Method: Venipuncture
Laboratory Analysis
A healthcare professional will collect 4 mL of blood from a vein in your arm using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities unless otherwise advised.
Timeline: Reports are typically available by Friday if sample is collected by Monday 11 am.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose myotonic dystrophy by detecting mutations in the DMPK and ZFN9 genes, aiding in accurate diagnosis, treatment planning, and genetic counseling.
How to Prepare
- Fast for not required, but follow specific instructions if provided
- Bring the completed Form 20 to the collection center
- Wear loose clothing for easy access to the arm
- Stay hydrated before sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for accurate diagnosis, especially in prenatal and family planning contexts, given the autosomal dominant inheritance of myotonic dystrophy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolysis
- Insufficient volume (<2 mL)
- Improperly labeled or unlabeled sample
- Sample collected in wrong tube type
Understanding Your Results
Negative for mutations
No pathogenic variants detected in DMPK or ZFN9 genes. Clinical correlation is recommended if symptoms persist.
Positive for DMPK mutation
Likely diagnosis of Myotonic Dystrophy Type 1 (DM1). Genetic counseling and family screening are advised.
Positive for ZFN9 mutation
Likely diagnosis of Myotonic Dystrophy Type 2 (DM2). Typically milder symptoms; management and monitoring are recommended.
Consult a neurologist or geneticist if you have symptoms like muscle weakness, myotonia, cataracts, or heart issues, or if you have a family history of myotonic dystrophy.
Limitations
- ⚠May not detect all rare mutations or variants of uncertain significance
- ⚠Cannot determine disease severity or progression
- ⚠Requires clinical correlation for diagnosis
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection or dizziness
- ●Psychological impact of genetic results
Interfering Factors
- ●Hemolyzed or degraded blood sample
- ●Improper storage or transport conditions
- ●Contamination during sample collection
Compare With Similar Tests
| Test | Myotonic Dystrophy Comprehensive Profile Test | Muscular Dystrophy Panel | DMPK Gene Test | Genetic Carrier Testing |
|---|---|---|---|---|
| Comparison | Myotonic Dystrophy Comprehensive Profile Test |
Frequently Asked Questions
What is myotonic dystrophy?
What does the comprehensive profile test include?
Who should take this test?
How is the sample collected?
Is fasting required for this test?
What is the cost of the test?
How long does it take to get results?
What do positive results mean?
Are there any risks to the test?
Is home collection available?
Can this test be used for prenatal diagnosis?
What should I do after receiving results?
Related Tests
MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection Test
₹16,000MYF6 Gene Centronuclear Myopathy Type 3 NGS Genetic Test
₹20,000DRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis Test
₹7,500KIF7 Gene Acrocallosal Syndrome NGS Genetic Test
₹20,000APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic Test
₹20,000CST3 Gene Cerebral Amyloid Angiopathy NGS Genetic Test
₹20,000Reference 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.