EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Emery-Dreifuss Muscular Dystrophy
The EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 NGS Genetic DNA Test represents a breakthrough in neuromuscular disorder diagnostics. This advanced genetic test specifically targets mutations in the EMD gene, which encodes the emerin protein crucial for nuclear membrane stability in muscle cells. Emery-Dreifuss muscular dystrophy type 1 is an X-linked recessive disorder characterized by a distinctive clinical triad: early contractures of elbows, Achilles tendons, and post-cervical muscles; slowly progressive muscle weakness and wasting; and cardiac conduction defects that can lead to serious complications.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the EMD gene to identify:
- Point mutations, deletions, and insertions in the EMD gene
- Pathogenic variants affecting emerin protein function
- X-linked inheritance patterns characteristic of EDMD1
- Specific genetic markers associated with disease severity
- Carrier status in female relatives of affected individuals
The test utilizes next-generation sequencing technology to examine the entire coding region and flanking intronic sequences of the EMD gene, ensuring maximum detection sensitivity for various mutation types.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Early joint contractures, particularly in elbows and ankles
- Progressive muscle weakness in humeroperoneal distribution
- Cardiac conduction abnormalities or arrhythmias
- Family history of muscular dystrophy or sudden cardiac death
- Unexplained elevated creatine kinase levels
- Suspected Emery-Dreifuss muscular dystrophy based on clinical presentation
- Female relatives of affected males for carrier testing
- Prenatal diagnosis in families with known EMD mutations
Key Benefits of EMD Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of EDMD1, eliminating diagnostic uncertainty
- Early Intervention: Enables proactive cardiac monitoring and management of life-threatening arrhythmias
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Prognostic Guidance: Helps predict disease progression and anticipate potential complications
- Treatment Planning: Informs multidisciplinary care approaches involving neurologists and cardiologists
- Carrier Identification: Identifies at-risk female carriers who may benefit from cardiac surveillance
Understanding Your Test Results
Your genetic test report will provide clear interpretation of findings:
- Positive Result: Identification of a pathogenic EMD gene mutation confirms Emery-Dreifuss muscular dystrophy type 1 diagnosis
- Negative Result: No EMD mutation detected, though other genetic forms of muscular dystrophy should be considered
- Variant of Uncertain Significance: Rare genetic changes with unclear clinical impact may require additional family studies
- Carrier Status: Female carriers typically show no symptoms but have 50% risk of passing mutation to sons
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | EMD Gene Emery-Dreifuss Muscular 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and neuromuscular specialists ensures comprehensive care coordination regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and proactive health management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic testing without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care planning.
