TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurodegenerative Disorders
The TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Mohr-Tranebjaerg syndrome, a rare X-linked neurodegenerative disorder. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide precise detection of TIMM8A gene abnormalities that lead to progressive neurological deterioration affecting both sensory and cognitive functions.
What This Test Measures and Detects
This advanced genetic test specifically targets the TIMM8A (Translocase of Inner Mitochondrial Membrane 8 Homolog A) gene, which plays a crucial role in mitochondrial protein import and function. The test identifies:
- Pathogenic variants in the TIMM8A gene responsible for Mohr-Tranebjaerg syndrome
- Mutations causing progressive opticoacoustic nerve degeneration
- Genetic abnormalities leading to combined vision and hearing loss
- Variants associated with early-onset dementia symptoms
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Sensorineural hearing impairment developing concurrently with visual symptoms
- Cognitive decline or dementia symptoms in conjunction with sensory deficits
- Family history of similar neurological and sensory disorders
- Unexplained neurological deterioration affecting multiple systems
- Suspected mitochondrial disorders with multisystem involvement
Significant Benefits of Genetic Testing
Undergoing the TIMM8A genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Mohr-Tranebjaerg syndrome with precision
- Early Intervention: Enables proactive management strategies before significant disability occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Informs appropriate therapeutic approaches and symptom management
- Prognostic Information: Helps predict disease progression and expected outcomes
- Research Contribution: Advances understanding of rare neurodegenerative disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of a pathogenic TIMM8A mutation, confirming Mohr-Tranebjaerg syndrome diagnosis
- Negative Result: Suggests the absence of known TIMM8A mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further research
- Carrier Status: Determines if you carry the mutation and risk passing it to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our nationwide network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your neurological health continue. Our expert team of genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Early genetic testing can provide the clarity needed for effective management and treatment planning.
Book your TIMM8A Genetic DNA Test today by calling our dedicated genetic counseling hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and securing your neurological future.
