DMD Carrier Screening 79 Exons
Comprehensive Genetic Screening for Duchenne Muscular Dystrophy
The DMD Carrier Screening 79 Exons test represents a cutting-edge approach to genetic health assessment, specifically targeting Duchenne Muscular Dystrophy (DMD) carrier status detection. DMD is a severe X-linked recessive disorder affecting approximately 1 in 3,500-5,000 male births worldwide, making carrier screening an essential component of comprehensive genetic health planning.
What is Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy is a progressive neuromuscular disorder caused by mutations in the dystrophin gene located on the X chromosome. This gene provides instructions for producing dystrophin, a protein crucial for maintaining muscle fiber integrity and function. When dystrophin is deficient or absent, muscle cells become damaged and weakened over time, leading to progressive muscle degeneration and loss of function.
What the Test Measures and Detects
Our advanced DMD Carrier Screening utilizes MLPA (Multiplex Ligation-dependent Probe Amplification) technology to comprehensively analyze all 79 exons of the dystrophin gene. This sophisticated methodology enables precise detection of:
- Complete and partial gene deletions
- Gene duplications affecting multiple exons
- Copy number variations in the dystrophin gene
- Structural abnormalities across the entire gene sequence
The test specifically targets the most common mutation types responsible for DMD, providing comprehensive coverage of potential genetic variations that could lead to affected offspring.
Who Should Consider DMD Carrier Screening?
Primary Candidates for Testing
This screening is particularly recommended for:
- Women with family history of Duchenne Muscular Dystrophy or Becker Muscular Dystrophy
- Women planning pregnancy who want comprehensive genetic carrier screening
- Individuals with unexplained muscle weakness or elevated creatine kinase levels
- Women with affected male relatives (brothers, uncles, cousins) with muscular dystrophy
- Couples seeking preconception genetic counseling and family planning guidance
- Women with reproductive concerns related to genetic inheritance patterns
Clinical Indications and Symptoms
While carriers are typically asymptomatic, some may exhibit mild symptoms including:
- Mild muscle weakness or fatigue
- Elevated serum creatine kinase levels
- Cardiomyopathy in rare cases
- Muscle cramps or discomfort
Benefits of DMD Carrier Screening
Comprehensive Health Advantages
Undergoing DMD Carrier Screening provides numerous significant benefits:
- Informed Family Planning: Understand your genetic carrier status before conception
- Risk Assessment: Determine the probability of passing DMD to offspring
- Early Intervention: Access to prenatal testing options if carrier status is identified
- Genetic Counseling: Professional guidance for reproductive decisions
- Peace of Mind: Reduce uncertainty about genetic inheritance risks
- Comprehensive Coverage: Analysis of all 79 exons ensures thorough assessment
- Advanced Technology: MLPA methodology provides high accuracy and reliability
Understanding Your Test Results
Interpreting Screening Outcomes
Your DMD Carrier Screening results will fall into one of several categories:
- Negative Result: No detectable mutations in the dystrophin gene exons analyzed
- Positive Result: Identification of one or more mutations indicating carrier status
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications
Clinical Implications and Next Steps
If carrier status is confirmed, our genetic counseling team will provide:
- Detailed explanation of inheritance patterns and risks
- Discussion of reproductive options and prenatal testing
- Referral to appropriate specialists for ongoing care
- Family testing recommendations for at-risk relatives
- Comprehensive management and surveillance plans
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | DMD Carrier Screening 79 Exons |
| Regular Price | $876 USD |
| Discount Price | $626 USD |
| Turnaround Time | 7-10 days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | MLPA (Multiplex Ligation-dependent Probe Amplification) |
Pre-Test Instructions and Requirements
The DMD Carrier Screening 79 Exons test requires a Doctor’s prescription for most cases. However, prescription requirements do not apply for:
- Surgical preparation cases
- Pregnancy-related testing
- Individuals planning international travel requiring genetic screening
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas locations
- Phoenix and Southwest facilities
- And comprehensive coverage throughout all 50 states
Take Control of Your Genetic Health Today
Don’t leave your genetic health to chance. The DMD Carrier Screening 79 Exons test provides comprehensive insights into your carrier status for Duchenne Muscular Dystrophy, empowering you with knowledge for informed family planning decisions.
Ready to schedule your test? Contact us today:
Phone: +1(267) 388-9828
WhatsApp: +1(267) 388-9828
Our genetic specialists are available to answer your questions, discuss testing options, and help you schedule your appointment at a location convenient for you. Take the first step toward comprehensive genetic health awareness and secure your family’s future today.
