TMEM70 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The TMEM70 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare mitochondrial disorders. This advanced test specifically targets mutations in the TMEM70 gene, which plays a critical role in the assembly and function of mitochondrial complex V (ATP synthase). Mitochondrial complex V deficiency nuclear type 2 is a severe inherited condition that disrupts cellular energy production, leading to progressive neurological deterioration and multi-system involvement.
What This Test Detects
This sophisticated genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the TMEM70 gene for pathogenic variants associated with mitochondrial complex V deficiency. The test specifically identifies:
- Point mutations, insertions, and deletions in the TMEM70 gene
- Variants affecting ATP synthase assembly and function
- Nuclear DNA mutations causing mitochondrial energy production defects
- Genetic markers for autosomal recessive inheritance patterns
- Specific mutations linked to nuclear type 2 mitochondrial complex V deficiency
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with unexplained developmental delays or regression
- Patients experiencing progressive muscle weakness and hypotonia
- Individuals with recurrent episodes of lactic acidosis
- Patients with neurological symptoms including seizures, ataxia, or movement disorders
- Those with family history of mitochondrial diseases or unexplained infant deaths
- Individuals with cardiomyopathy or other cardiac manifestations
- Patients with failure to thrive and feeding difficulties in infancy
Clinical Benefits of Genetic Testing
Undergoing the TMEM70 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out mitochondrial complex V deficiency
- Personalized Treatment: Enables targeted therapeutic interventions
- Genetic Counseling: Provides essential information for family planning
- Prognostic Information: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely management of symptoms
- Research Contribution: Advances understanding of rare mitochondrial disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic TMEM70 gene mutations confirming mitochondrial complex V deficiency nuclear type 2
- Negative Result: Suggests absence of detectable mutations in the TMEM70 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located 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 other cities. Our network of certified genetic testing facilities ensures accessible, reliable testing for patients nationwide.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our team of genetic specialists is ready to assist you with comprehensive testing and counseling services. Contact us today to schedule your TMEM70 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 2 NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Our genetic counselors will guide you through the testing process, explain pre-test requirements, and help you understand the implications of your results for you and your family.
