TIMM8A Gene Dystonia-Deafness Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The TIMM8A Gene Dystonia-Deafness Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Mohr-Tranebjaerg syndrome. This rare X-linked neurodegenerative disorder primarily affects males and is characterized by progressive dystonia and sensorineural hearing loss. Our advanced testing methodology provides crucial insights for accurate diagnosis and personalized treatment planning.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the TIMM8A gene (also known as DDP1), which encodes a crucial component of the mitochondrial protein import machinery. Through next-generation sequencing technology, we identify:
- Point mutations in the TIMM8A gene sequence
- Deletions and insertions affecting gene function
- Frameshift mutations disrupting protein structure
- Splice site variants impacting gene expression
- Missense and nonsense mutations altering protein function
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Progressive movement disorders beginning in childhood
- Early-onset sensorineural hearing loss
- Family history of X-linked neurological conditions
- Unexplained dystonia or muscle coordination issues
- Progressive vision impairment or optic atrophy
- Developmental delays with neurological symptoms
- Suspected mitochondrial disorders with neurological manifestations
Clinical Benefits of Genetic Testing
Undergoing the TIMM8A Gene Dystonia-Deafness Syndrome test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Mohr-Tranebjaerg syndrome with high precision
- Early Intervention: Enables proactive management of symptoms before significant progression
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic mutation in the TIMM8A gene, confirming Mohr-Tranebjaerg syndrome diagnosis
- Negative Result: Suggests absence of detectable mutations in the TIMM8A gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: For female relatives, determines carrier status for X-linked inheritance patterns
All results include detailed clinical implications and recommendations for follow-up care with neurologists and genetic specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | TIMM8A Gene Dystonia-Deafness Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare providers
- Informed consent process for genetic testing
Nationwide Testing Availability
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 state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our TIMM8A Gene Dystonia-Deafness Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions. With our discounted price of $500 USD (regularly $700), advanced genetic testing is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your neurological health with comprehensive genetic insights from General Genetics Corporation.
