SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 NGS Genetic DNA Test

Comprehensive Genetic Testing for Neuromuscular Disorders

The SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of inherited neuromuscular conditions. This specialized genetic analysis utilizes next-generation sequencing technology to identify mutations in the SYNE2 gene, which plays a critical role in maintaining nuclear envelope integrity and muscle cell function. Early and accurate diagnosis through this test enables healthcare providers to implement targeted treatment strategies and provide appropriate genetic counseling for affected families.

What This Test Detects

Our advanced NGS genetic testing specifically targets the SYNE2 gene, which encodes the Nesprin-2 protein essential for nuclear positioning and cytoskeletal organization in muscle cells. The test identifies:

• Point mutations and small insertions/deletions in the SYNE2 gene
• Pathogenic variants associated with Emery-Dreifuss muscular dystrophy type 5
• Genetic alterations affecting nuclear envelope structure
• Inheritance patterns for family planning purposes

Who Should Consider This Test

This genetic test is recommended for individuals presenting with symptoms suggestive of Emery-Dreifuss muscular dystrophy or those with a family history of the condition. Key indications include:

• Early-onset muscle weakness, particularly in shoulders and upper arms
• Progressive joint contractures affecting elbows, ankles, and neck
• Cardiac conduction abnormalities or cardiomyopathy
• Family history of neuromuscular disorders
• Unexplained progressive muscle wasting
• Children with delayed motor milestones and muscle stiffness

Benefits of Genetic Testing

Undergoing the SYNE2 gene test provides numerous advantages for patients and their families:

• Accurate Diagnosis: Confirms or rules out Emery-Dreifuss muscular dystrophy type 5
• Early Intervention: Enables proactive management of symptoms and complications
• Family Planning: Provides crucial information for reproductive decisions
• Personalized Treatment: Guides targeted therapeutic approaches
• Cardiac Monitoring: Identifies need for regular heart function assessments
• Genetic Counseling: Supports informed decision-making for at-risk relatives

Understanding Your Test Results

Our comprehensive genetic analysis provides clear, actionable results with professional interpretation:

• Positive Result: Indicates the presence of a pathogenic SYNE2 gene mutation, confirming Emery-Dreifuss muscular dystrophy type 5 diagnosis
• Negative Result: Suggests no detectable mutation in the SYNE2 gene, though other genetic causes should be considered
• Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation
• Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms

All results include detailed explanations and recommendations for follow-up care with our specialized neurologists and genetic counselors.

Test Pricing and Availability

Nationwide Testing Facilities

GGC DNA maintains state-of-the-art testing facilities 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, and San Jose. Our certified genetic counselors and neurological specialists provide comprehensive support throughout the testing process.

Schedule Your Genetic Consultation

Take the first step toward understanding your genetic health. Our team of experienced neurologists and genetic specialists is ready to provide personalized care and guidance. Contact us today to schedule your SYNE2 gene testing appointment.

Call or WhatsApp: +1(267) 388-9828

Book your comprehensive genetic assessment and receive expert interpretation of your results from our dedicated healthcare team.