DMPK Gene Myotonic Dystrophy Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The DMPK Gene Myotonic Dystrophy Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with myotonic dystrophy type 1. This progressive neuromuscular disorder affects multiple body systems and requires accurate genetic confirmation for proper management and treatment planning.
What This Advanced Genetic Test Measures
Our state-of-the-art NGS (Next-Generation Sequencing) technology specifically targets the DMPK (Dystrophia Myotonica Protein Kinase) gene on chromosome 19q13.3. The test detects CTG trinucleotide repeat expansions in the 3′ untranslated region of the DMPK gene, which is the primary genetic cause of myotonic dystrophy type 1.
- Accurate measurement of CTG repeat expansion size
- Detection of premutation and full mutation status
- Identification of genetic anticipation patterns
- Comprehensive analysis of DMPK gene variants
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of myotonic dystrophy type 1 or those with a family history of the condition.
Clinical Indications Include:
- Progressive muscle weakness and wasting
- Myotonia (delayed muscle relaxation after contraction)
- Cardiac conduction abnormalities
- Cataracts developing at an early age
- Endocrine disorders including insulin resistance
- Gastrointestinal symptoms and swallowing difficulties
- Daytime sleepiness and fatigue
- Family history of neuromuscular disorders
Significant Benefits of Genetic Testing
Undergoing the DMPK Gene Myotonic Dystrophy Type 1 NGS Genetic DNA Test provides numerous advantages for patients and their families.
- Definitive Diagnosis: Provides conclusive genetic confirmation of myotonic dystrophy type 1
- Early Intervention: Enables proactive management of symptoms and complications
- Family Planning: Offers crucial information for reproductive decisions and genetic counseling
- Treatment Guidance: Helps neurologists develop targeted treatment strategies
- Prognostic Information: Provides insight into disease progression and severity
- Peace of Mind: Reduces diagnostic uncertainty and anxiety
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your DMPK gene analysis with guidance from our expert genetic counselors.
Normal Results:
Normal CTG repeat lengths (typically 5-34 repeats) indicate no increased risk for myotonic dystrophy type 1. However, clinical correlation with symptoms is always recommended.
Abnormal Results:
Expanded CTG repeats are categorized as:
- Premutation: 35-49 repeats (increased risk for affected offspring)
- Full Mutation: 50+ repeats (diagnostic for myotonic dystrophy type 1)
- Severe Expansion: 1000+ repeats (associated with congenital form)
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | DMPK Gene Myotonic Dystrophy Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of testing implications with healthcare provider
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection facilities ensures accessible genetic testing for everyone.
Take Control of Your Neurological Health
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our DMPK Gene Myotonic Dystrophy Type 1 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions and proper disease management.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and comprehensive neurological care.
