DMPK Gene Myotonic dystrophy type 1 NGS Genetic Test
Short Name: DMPK DM1 NGS Test
Also known as: DMPK Gene Mutation Analysis, Myotonic Dystrophy Type 1 Genetic Test, DM1 NGS Panel
DMPK Gene Myotonic dystrophy type 1 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 usually available 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 test is to provide a molecular confirmation of myotonic dystrophy type 1 in a symptomatic individual or an at-risk family member. NGS-based analysis of the DMPK gene helps identify pathogenic variants associated with DM1 and supports informed clinical and reproductive decisions.
- Test Code
- 4392
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A genetic counselling session is required before the test to draw a pedigree chart of family members affected with DMPK gene myotonic dystrophy type 1. The clinician will review the patient's clinical history and obtain informed consent. Fasting is not required.
Method: Venipuncture or FTA blood spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA tube or prepare an FTA card blood spot. The procedure is quick and does not require sedation.
Report Delivery
You can resume normal activities immediately. The laboratory will process the sample and provide the report in 3 to 4 weeks. Genetic counselling is recommended to understand the result.
Timeline: Reports are usually available 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 test is to provide a molecular confirmation of myotonic dystrophy type 1 in a symptomatic individual or an at-risk family member. NGS-based analysis of the DMPK gene helps identify pathogenic variants associated with DM1 and supports informed clinical and reproductive decisions.
How to Prepare
- No fasting required
- Bring previous genetic or clinical reports if available
- Complete the pre-test genetic counselling session
- Ensure correct patient identification details are entered
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test should be ordered only after clinical evaluation and genetic counselling. The result must be interpreted in the context of the patient's symptoms and family history."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolysed blood sample
- Incorrectly labelled sample
- Sample received after prolonged transit delay
- Insufficient sample quantity
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Supports the clinical diagnosis of myotonic dystrophy type 1 in the appropriate clinical context.
No pathogenic variant detected
Reduces but does not completely exclude the possibility of DM1; complementary testing may be considered.
Variant of uncertain significance (VUS)
Not diagnostic; family segregation studies may help clarify the clinical significance.
Intermediate or premutation repeat range
Usually not associated with full DM1 phenotype, but may expand in future generations; genetic counselling is recommended.
Consult a neurologist or genetic counsellor if you have progressive muscle weakness, myotonia, unsteady gait, early cataracts, swallowing difficulty, or a family history of myotonic dystrophy type 1.
Limitations
- ⚠NGS may not reliably detect very large repeat expansions; complementary testing may be advised if clinically indicated.
- ⚠A negative result does not completely exclude myotonic dystrophy type 1 if clinical suspicion is high.
- ⚠Results must be interpreted by a clinical geneticist in the context of the patient's symptoms and family history.
Risks & Considerations
- ●Minimal pain or discomfort during blood collection
- ●Small bruise or bleeding at the puncture site
- ●Rare local infection after venipuncture
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination of blood or DNA sample
- ●Incorrect sample labeling
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | DMPK Gene Myotonic dystrophy type 1 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | DMPK Gene Myotonic dystrophy type 1 NGS Genetic Test |
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.