Myotonic Dystrophy Type 1 Test
Understanding Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 (DM1) is a progressive genetic disorder that affects multiple body systems, particularly muscles and the nervous system. As the most common form of adult-onset muscular dystrophy, DM1 results from an abnormal expansion of CTG repeats in the DMPK gene on chromosome 19. This comprehensive genetic test provides definitive diagnosis and helps guide appropriate medical management for individuals and families affected by this complex condition.
What Does the Test Measure?
Our advanced Myotonic Dystrophy Type 1 Test utilizes sophisticated molecular techniques to detect and quantify the CTG repeat expansion in the DMPK gene:
- Identifies abnormal CTG triplet repeat expansions in the DMPK gene
- Distinguishes between normal alleles (5-37 repeats), premutation alleles (38-49 repeats), and full mutation alleles (50+ repeats)
- Provides precise sizing of repeat expansions to help predict disease severity
- Uses PCR and fragment analysis for accurate detection and quantification
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing symptoms suggestive of myotonic dystrophy or those with a family history of the condition:
Clinical Symptoms Indicating Testing
- Progressive muscle weakness, particularly in hands, neck, and face
- Myotonia (delayed muscle relaxation after contraction)
- Cardiac conduction abnormalities or arrhythmias
- Cataracts developing at an early age
- Excessive daytime sleepiness or fatigue
- Cognitive changes or executive function difficulties
- Gastrointestinal issues including swallowing difficulties
- Respiratory complications
Family History Considerations
- Individuals with a known family history of myotonic dystrophy
- Parents considering pregnancy when one partner has DM1
- At-risk relatives of diagnosed individuals
- Couples seeking preconception genetic counseling
Benefits of Myotonic Dystrophy Type 1 Testing
Early and accurate genetic testing for DM1 provides numerous advantages for patients and healthcare providers:
Medical Management Benefits
- Enables early intervention and symptom management
- Facilitates appropriate cardiac monitoring and treatment
- Guides respiratory care and monitoring
- Helps coordinate multidisciplinary care approach
- Supports anesthesia planning for surgical procedures
Personal and Family Benefits
- Provides definitive diagnosis and eliminates diagnostic uncertainty
- Enables informed family planning decisions
- Facilitates genetic counseling for at-risk relatives
- Helps understand inheritance patterns and recurrence risks
- Supports participation in clinical trials and research studies
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your genetic findings:
Normal Results
Normal alleles typically contain 5-37 CTG repeats. A result in this range indicates that the DMPK gene does not contain the expansion associated with Myotonic Dystrophy Type 1.
Premutation Range
Alleles with 38-49 repeats are considered premutations. Individuals with premutations are typically asymptomatic but may be at risk of having children with expanded, symptomatic alleles.
Full Mutation Range
Alleles with 50 or more CTG repeats are considered full mutations and are associated with Myotonic Dystrophy Type 1. The number of repeats often correlates with disease severity and age of onset, with larger expansions typically associated with more severe, earlier-onset disease.
Genetic Counseling
All positive results are accompanied by recommendations for genetic counseling to help patients and families understand the implications of test results, inheritance patterns, and available management options.
Test Pricing and Information
| Test Component | Price |
|---|---|
| Myotonic Dystrophy Type 1 Test | $212 USD (Discounted Price) |
| Regular Price | $376 USD |
| Turnaround Time | Sample by Monday 11 AM; Report by Friday |
| Sample Type | 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube |
| Shipping Instructions | Ship refrigerated. DO NOT FREEZE |
| Required Forms | Duly filled Genomics Clinical Information Requisition Form (Form 20) |
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our Myotonic Dystrophy Type 1 Test provides the clarity needed for proper diagnosis and management. With our discounted price of $212 USD and rapid turnaround time, getting answers has never been more accessible.
Ready to schedule your test? Contact our genetic specialists today:
Phone: +1(267) 388-9828
Our knowledgeable staff is available to answer your questions, help with scheduling, and provide guidance throughout the testing process. Take the first step toward understanding your genetic health with confidence and precision.
