ATP5F1A Gene Mitochondrial Complex V Deficiency Nuclear Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Energy Disorders
The ATP5F1A Gene Mitochondrial Complex V Deficiency Nuclear Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced test specifically targets the ATP5F1A gene, which plays a critical role in cellular energy production through mitochondrial complex V function. Mitochondrial complex V, also known as ATP synthase, is essential for generating adenosine triphosphate (ATP), the primary energy currency of cells. When mutations occur in the ATP5F1A gene, it disrupts this vital energy production process, leading to severe neurological and metabolic consequences.
What This Test Measures and Detects
Our comprehensive NGS genetic test precisely identifies pathogenic variants in the ATP5F1A gene that cause mitochondrial complex V deficiency nuclear type 4. The test examines:
- Complete coding regions of the ATP5F1A gene
- Exon-intron boundaries for splice site mutations
- Copy number variations affecting gene function
- Specific nucleotide changes associated with disease pathology
- Both inherited and de novo genetic mutations
This test utilizes state-of-the-art next-generation sequencing technology to provide comprehensive coverage of the ATP5F1A gene with exceptional accuracy and sensitivity, detecting even rare variants that might be missed by conventional genetic testing methods.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial complex V deficiency, including:
- Infants and children with developmental delays or regression
- Patients experiencing progressive muscle weakness and fatigue
- Individuals with unexplained seizures or epilepsy
- Cases of hypotonia (low muscle tone) in infancy
- Patients with lactic acidosis or metabolic abnormalities
- Individuals with family history of mitochondrial disorders
- Unexplained neurological deterioration in childhood
- Suspected Leigh syndrome or similar mitochondrial encephalopathies
Clinical Benefits of ATP5F1A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out ATP5F1A-related mitochondrial complex V deficiency with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize patient outcomes
- Research Contribution: Advances understanding of mitochondrial disorders and potential treatments
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies a pathogenic variant in the ATP5F1A gene, confirming mitochondrial complex V deficiency nuclear type 4 diagnosis
- Negative Result: No disease-causing variants detected in the ATP5F1A 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 individuals carry one copy of a mutated gene without showing symptoms
All results include detailed interpretation by our board-certified genetic specialists, with recommendations for clinical management and family testing when appropriate.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| ATP5F1A Gene Mitochondrial Complex V Deficiency Nuclear Type 4 NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Action for Your Genetic Health
Don’t wait to get the answers you need for proper diagnosis and treatment. Our experienced genetic counselors and neurological specialists are ready to help you understand your genetic health and make informed decisions about your care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your ATP5F1A genetic test and take the first step toward definitive diagnosis and personalized treatment planning.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing convenient and accessible. Our pre-test genetic counseling ensures you’re fully prepared for the testing process and understand the potential implications of your results.
