TIMM8A Gene Jensen Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The TIMM8A Gene Jensen Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for Jensen syndrome. This rare X-linked disorder affects mitochondrial function and manifests through progressive neurological symptoms that significantly impact quality of life. Our advanced testing methodology provides families and healthcare providers with definitive answers for complex neurological presentations.
What This Test Measures and Detects
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the TIMM8A gene, also known as the DDP1 gene. The test specifically identifies:
- Point mutations, deletions, and insertions in the TIMM8A gene
- Variants associated with impaired mitochondrial protein import
- Genetic markers for Mohr-Tranebjaerg syndrome (deafness-dystonia syndrome)
- X-linked inheritance patterns affecting male patients predominantly
- Mutations impacting the mitochondrial intermembrane space
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of Jensen syndrome or related mitochondrial disorders:
- Progressive sensorineural hearing loss beginning in childhood
- Development of dystonia or movement disorders
- Cognitive impairment or intellectual disability
- Visual disturbances including cortical blindness
- Family history of X-linked neurological disorders
- Unexplained neurological symptoms in male patients
- Suspected mitochondrial dysfunction syndromes
Clinical Benefits of Genetic Testing
Undergoing the TIMM8A Gene Jensen Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out Jensen syndrome with high accuracy
- Treatment Guidance: Informs appropriate management strategies for neurological symptoms
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Enables proactive management of progressive symptoms
- Family Risk Assessment: Identifies carrier status in female relatives
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic TIMM8A mutation, confirming Jensen syndrome diagnosis
- Negative Result: Suggests Jensen syndrome is unlikely, though other genetic conditions may need consideration
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: For female relatives, indicates risk of passing the condition to offspring
All results include detailed explanations and recommendations for next steps, supported by our team of genetic specialists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | TIMM8A Gene Jensen Syndrome 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Review of neurological examination findings
- Discussion of testing implications with healthcare provider
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, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Answers
Don’t let uncertainty about neurological symptoms continue. Our expert team of genetic specialists and neurologists is ready to provide the comprehensive testing and support you need. Schedule your TIMM8A Gene Jensen Syndrome NGS Genetic DNA Test today and take control of your neurological health.
Call or WhatsApp us now at +1(267) 388-9828 to book your test or request more information about our genetic testing services.
Our dedicated patient care coordinators are available to answer your questions, discuss insurance coverage options, and help you begin your journey toward accurate diagnosis and effective management of neurological conditions.
