BOLA3 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The BOLA3 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the BOLA3 gene, which plays a critical role in mitochondrial function and cellular energy production. Multiple mitochondrial dysfunctions syndrome type 2 is a rare autosomal recessive disorder characterized by severe neurological impairment and metabolic disturbances that typically manifest in infancy.
What This Test Measures and Detects
This comprehensive genetic test specifically analyzes the BOLA3 gene for pathogenic variants that disrupt normal mitochondrial function. The test detects:
- Point mutations, deletions, and insertions in the BOLA3 gene
- Variants affecting iron-sulfur cluster biogenesis pathways
- Genetic alterations impacting mitochondrial complex assembly
- Inheritance patterns through family genetic analysis
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with unexplained neurological deterioration
- Patients exhibiting developmental regression or delayed milestones
- Individuals with metabolic acidosis and lactic acidosis
- Cases of hypotonia, seizures, or movement disorders
- Family history of mitochondrial disorders or consanguineous parents
- Unexplained failure to thrive in infancy
- Progressive neurological symptoms with metabolic abnormalities
Key Benefits of Genetic Testing
Undergoing the BOLA3 gene test provides numerous advantages for patients and families:
- Accurate diagnosis enabling targeted treatment approaches
- Genetic counseling for family planning decisions
- Early intervention strategies to manage symptoms
- Clarification of prognosis and disease progression
- Elimination of diagnostic uncertainty and unnecessary testing
- Access to specialized care and support services
- Potential participation in clinical trials and research studies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Positive results indicating BOLA3 gene mutations confirm the diagnosis of multiple mitochondrial dysfunctions syndrome type 2, allowing for immediate implementation of appropriate management strategies. Negative results help exclude this specific mitochondrial disorder, guiding further diagnostic evaluation. All results include comprehensive genetic counseling to ensure complete understanding of implications for the patient and family members.
Test Pricing Information
| Test Component | Price (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, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality genetic testing services with rapid turnaround times of 3-4 weeks.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders delay proper diagnosis and treatment. Our specialized genetic testing provides the clarity needed to make informed healthcare decisions. Contact our genetic counseling team at +1(267) 388-9828 to schedule your BOLA3 gene test or to discuss your testing options with our expert neurologists and genetic specialists.
