Nx Gen Sequencing Duchenne Becker Muscular Dystrophy Test
Comprehensive Genetic Testing for Muscular Dystrophy
The Nx Gen Sequencing Duchenne Becker Muscular Dystrophy Test represents a breakthrough in genetic diagnostics for neuromuscular disorders. Utilizing advanced next-generation sequencing (NGS) technology, this test provides unparalleled accuracy in detecting mutations within the DMD gene, which is responsible for both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). These progressive muscle-wasting conditions affect approximately 1 in 3,500-5,000 male births worldwide, making early and accurate diagnosis crucial for optimal patient management.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the DMD gene located on the X chromosome, which encodes the dystrophin protein essential for muscle fiber stability. The test employs sophisticated NGS methodology combined with Sanger sequencing validation to identify:
- Large-scale deletions and duplications in the DMD gene
- Point mutations and small indels (insertions/deletions)
- Splice site mutations affecting protein production
- Novel mutations not previously identified
- Carrier status in female relatives
Who Should Consider This Test
This advanced genetic testing is recommended for individuals presenting with:
- Progressive muscle weakness, particularly in proximal muscles
- Delayed motor milestones in childhood (walking, running, climbing)
- Elevated serum creatine kinase (CK) levels
- Family history of muscular dystrophy or unexplained muscle disease
- Gowers’ sign (using hands to push up from floor)
- Calf muscle hypertrophy (enlargement)
- Learning difficulties or cognitive impairment with muscle symptoms
- Cardiac abnormalities in conjunction with muscle weakness
Clinical Benefits of Testing
Undergoing the Nx Gen Sequencing Duchenne Becker Muscular Dystrophy Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out DMD/BMD with high accuracy
- Early Intervention: Enables timely implementation of treatments and therapies
- Genetic Counseling: Provides essential information for family planning
- Personalized Care: Guides appropriate medical management and monitoring
- Clinical Trial Eligibility: May qualify patients for emerging therapies
- Carrier Detection: Identifies female carriers for genetic counseling
Understanding Your Test Results
Your test results will be thoroughly explained by our genetic specialists. Generally, results fall into these categories:
- Positive Result: Identifies a pathogenic mutation in the DMD gene, confirming diagnosis of Duchenne or Becker muscular dystrophy
- Negative Result: No disease-causing mutation detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies a genetic change whose clinical significance requires further evaluation
- Carrier Status: For female patients, identifies whether they carry a DMD mutation
Our genetic counselors will provide comprehensive interpretation and discuss implications for treatment, prognosis, and family planning.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Nx Gen Sequencing Duchenne Becker Muscular Dystrophy Test |
| Regular Price | $650 USD |
| Discount Price | $586 USD |
| Turnaround Time | 40 Working Days |
| Sample Type | 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes |
| Sample Requirements | Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory |
Nationwide Testing Availability
We have diagnostic centers conveniently located 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. Our network ensures accessible genetic testing services nationwide.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about muscle weakness or family history delay your path to answers. Our advanced Nx Gen Sequencing technology provides the comprehensive genetic analysis needed for accurate diagnosis and informed treatment decisions. Our team of neurologists and genetic specialists are ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your appointment or book your test online. Take control of your health journey with definitive genetic testing from America’s leading molecular diagnostics laboratory.
