Myotonic Dystrophy Comprehensive Profile Test
Understanding Myotonic Dystrophy Genetic Testing
Myotonic dystrophy represents one of the most common inherited neuromuscular disorders affecting adults, characterized by progressive muscle weakness, myotonia (delayed muscle relaxation), and multi-system involvement. Our comprehensive genetic profile test provides definitive diagnosis by analyzing the specific genetic mutations responsible for both type 1 and type 2 myotonic dystrophy.
What This Test Measures and Detects
The Myotonic Dystrophy Comprehensive Profile utilizes advanced PCR and fragment analysis techniques to detect:
- DMPK Gene CTG Repeat Expansions – Identifies mutations causing Myotonic Dystrophy Type 1 (DM1)
- ZFN9 Gene CCTG Repeat Expansions – Detects mutations responsible for Myotonic Dystrophy Type 2 (DM2)
- Repeat Expansion Sizing – Determines the exact number of nucleotide repeats for accurate prognosis
- Genetic Confirmation – Provides definitive diagnosis to distinguish from other neuromuscular conditions
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This comprehensive genetic profile is recommended for individuals experiencing:
- Progressive muscle weakness, particularly in face, neck, and distal limbs
- Myotonia (muscle stiffness and delayed relaxation after contraction)
- Cardiac conduction abnormalities or arrhythmias
- Cataracts developing at an early age
- Excessive daytime sleepiness and fatigue
- Family history of neuromuscular disorders
- Unexplained muscle wasting or weakness
- Respiratory complications without clear cause
Benefits of Myotonic Dystrophy Genetic Testing
Undergoing comprehensive genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis – Distinguishes between DM1 and DM2 for appropriate management
- Prognostic Information – Repeat size correlates with disease severity and progression
- Family Planning Guidance – Identifies inheritance patterns and recurrence risks
- Early Intervention – Enables proactive management of cardiac and respiratory complications
- Treatment Planning – Guides appropriate therapeutic approaches and monitoring
- Genetic Counseling – Provides basis for informed reproductive decisions
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully interpreted by our expert molecular geneticists:
- Normal Range – CTG repeats ≤34 in DMPK gene; CCTG repeats ≤26 in ZFN9 gene
- Premutation Range – CTG repeats 35-49 (increased risk for offspring)
- Affected Range – CTG repeats ≥50 (diagnostic for DM1); CCTG repeats ≥75 (diagnostic for DM2)
- Clinical Correlation – Results are interpreted in context of clinical symptoms and family history
- Genetic Counseling – Comprehensive post-test counseling provided for all positive results
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| Myotonic Dystrophy Comprehensive Profile Test | $450 USD | $276 USD |
Testing Process and Turnaround
Sample Requirements: 4 mL (2 mL minimum) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Turnaround Time: Samples received by Monday 11 AM; Reports delivered Friday
Pre-test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Nationwide Testing Availability
We have diagnostic centers across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Book Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our expert team of genetic counselors and neurologists are ready to assist you through every step of the testing process.
Call or WhatsApp: +1(267) 388-9828
Schedule your comprehensive myotonic dystrophy genetic testing and receive the clarity you need for better health management and family planning decisions.