KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neuromuscular Disorders
The KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neuromuscular conditions. This advanced test specifically targets mutations in the KBTBD13 gene, which plays a crucial role in muscle protein structure and function. Nemaline myopathy type 6 is an inherited disorder characterized by the presence of abnormal rod-like structures (nemaline bodies) in muscle fibers, leading to progressive muscle weakness and respiratory complications.
What This Test Measures and Detects
Our state-of-the-art NGS technology examines the complete coding region of the KBTBD13 gene to identify:
- Pathogenic variants and mutations in the KBTBD13 gene
- Single nucleotide polymorphisms (SNPs) associated with nemaline myopathy
- Insertions, deletions, and copy number variations
- Novel genetic variants that may contribute to disease development
- Inheritance patterns for family planning purposes
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing:
- Progressive muscle weakness, particularly in proximal muscles
- Delayed motor milestones in childhood
- Respiratory difficulties or breathing problems
- Family history of neuromuscular disorders
- Unexplained muscle fatigue and decreased endurance
- Abnormal muscle biopsy showing nemaline rods
- Planning for pregnancy with family history of muscle disorders
Key Benefits of Genetic Testing
Undergoing the KBTBD13 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out nemaline myopathy type 6
- Personalized Treatment: Enables targeted therapeutic approaches
- Family Planning: Provides crucial information for reproductive decisions
- Early Intervention: Facilitates proactive management strategies
- Genetic Counseling: Supports informed family discussions
- Research Contribution: Advances understanding of rare neuromuscular diseases
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of pathogenic KBTBD13 mutations, confirming nemaline myopathy type 6 diagnosis
- Negative Result: Suggests absence of known pathogenic variants in the KBTBD13 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | KBTBD13 Gene Nemaline Myopathy Type 6 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree chart creation for affected relatives
- Understanding of potential results and their impact
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our KBTBD13 genetic test provides the answers you need for informed healthcare decisions. Contact our genetic specialists today to schedule your test and begin your journey toward accurate diagnosis and personalized care.
Call or WhatsApp us at +1(267) 388-9828 to book your KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test today!
