TGM6 Gene Spinocerebellar Ataxia Type 35 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Introduction to TGM6 Gene Testing
The TGM6 Gene Spinocerebellar Ataxia Type 35 Autosomal Dominant NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the TGM6 gene, which encodes transglutaminase 6, a crucial enzyme involved in protein modification and cellular signaling within the nervous system. When mutations occur in this gene, they can lead to spinocerebellar ataxia type 35, a progressive neurological disorder affecting coordination, balance, and motor function.
Understanding your genetic predisposition to neurological conditions is paramount for early intervention and personalized treatment planning. Our state-of-the-art testing facility utilizes Next-Generation Sequencing technology to provide comprehensive analysis of the TGM6 gene with exceptional accuracy and reliability.
What This Test Measures and Detects
This advanced genetic test specifically targets:
- Pathogenic variants in the TGM6 gene associated with spinocerebellar ataxia type 35
- Autosomal dominant inheritance patterns within the TGM6 gene
- Single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
- Missense, nonsense, and frameshift mutations affecting transglutaminase 6 function
- Genetic markers indicating increased risk for progressive neurological deterioration
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Progressive difficulty with coordination and balance
- Unsteady gait and frequent stumbling
- Slurred speech and dysarthria
- Involuntary eye movements (nystagmus)
- Muscle stiffness and spasticity
- Family history of neurological disorders or ataxia
- Unexplained progressive neurological symptoms
- Individuals planning pregnancy with family history of ataxia
Significant Benefits of TGM6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt identification of spinocerebellar ataxia type 35 before severe symptoms develop
- Personalized Treatment: Facilitates targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Proactive Management: Allows for early intervention strategies to slow disease progression
- Peace of Mind: Reduces uncertainty and provides clarity about neurological symptoms
- Research Contribution: Helps advance scientific understanding of neurological genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully comprehend your test outcomes:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the TGM6 gene associated with spinocerebellar ataxia type 35. This finding confirms the genetic basis of neurological symptoms and enables:
- Development of personalized management strategies
- Family member screening recommendations
- Access to specialized neurological care
- Participation in clinical trials and support groups
Negative Result Interpretation
A negative result suggests that no known pathogenic mutations were detected in the TGM6 gene. However, this doesn’t completely rule out other genetic or non-genetic causes of neurological symptoms, and further evaluation may be recommended.
Variant of Uncertain Significance (VUS)
In some cases, genetic changes of unknown clinical significance may be identified. Our genetic counselors provide comprehensive guidance on monitoring and potential implications.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | TGM6 Gene Spinocerebellar Ataxia Type 35 Autosomal Dominant NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Accessibility and Convenience
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing regardless of your location.
Pre-Test Preparation Requirements
To ensure optimal testing accuracy, we require:
- Complete clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Review of neurological symptoms and progression
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive TGM6 genetic testing provides the clarity and information needed to make informed healthcare decisions. With advanced NGS technology and expert genetic counseling, you can trust our diagnostic accuracy and professional support.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health with confidence and precision.
