DNAJB6 Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1E NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The DNAJB6 Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1E NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological disorders. This advanced test specifically targets mutations in the DNAJB6 gene, which plays a critical role in protein folding and cellular stress response. When this gene malfunctions, it leads to progressive muscle degeneration characteristic of limb-girdle muscular dystrophy type 1E.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire DNAJB6 gene for pathogenic variants. The test identifies:
- Point mutations affecting protein structure
- Deletions and insertions disrupting gene function
- Missense mutations altering amino acid sequences
- Nonsense mutations creating premature stop codons
- Splice site variants affecting RNA processing
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing:
- Progressive muscle weakness in hips and shoulders
- Difficulty rising from chairs or climbing stairs
- Family history of muscular dystrophy or unexplained muscle weakness
- Abnormal gait or frequent falls
- Muscle wasting without clear explanation
- Elevated creatine kinase levels
- Planning for family with known muscular dystrophy risk
Significant Benefits of Genetic Testing
Undergoing the DNAJB6 gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out specific genetic cause of symptoms
- Family Planning: Enables informed reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted management strategies
- Prognostic Information: Provides insight into disease progression expectations
- Genetic Counseling: Supports family members in understanding inheritance patterns
- Clinical Trial Eligibility: May qualify patients for emerging treatments
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies a pathogenic variant in the DNAJB6 gene, confirming diagnosis of limb-girdle muscular dystrophy type 1E
- Negative Result: No disease-causing mutations detected, though other genetic or non-genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals who carry one copy of mutated gene but may not show symptoms
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | DNAJB6 Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1E NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
Pre-Test Preparation Requirements
Before undergoing testing, patients should provide:
- Complete clinical history documenting muscle weakness progression
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by muscular dystrophy
- Previous neurological examination results
- Muscle biopsy or EMG reports if available
Nationwide Testing Availability
We provide comprehensive genetic testing services 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 neurologists work together to ensure you receive the highest quality care and accurate results.
Take Control of Your Health Today
Don’t let uncertainty about muscle weakness symptoms control your life. Our DNAJB6 genetic test provides definitive answers that can guide your treatment journey and inform important life decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you’ll gain valuable insights into your condition.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
