ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 NGS Genetic DNA Test
Understanding Mitochondrial Dysfunctions Syndrome Type 4
Multiple mitochondrial dysfunctions syndrome type 4 is a rare, inherited neurological disorder caused by mutations in the ISCA2 gene. This condition disrupts the normal function of mitochondria, the energy-producing powerhouses within our cells. When mitochondria fail to function properly, it leads to severe energy deficiencies that primarily affect the brain and nervous system, resulting in progressive neurological deterioration.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically targets the ISCA2 gene to identify pathogenic mutations responsible for multiple mitochondrial dysfunctions syndrome type 4. The test analyzes:
- Complete ISCA2 gene sequencing for point mutations
- Detection of small insertions and deletions
- Identification of copy number variations
- Assessment of mitochondrial iron-sulfur cluster biogenesis pathways
Who Should Consider This Genetic Screening?
This test is recommended for individuals presenting with:
- Unexplained neurological symptoms in infancy or early childhood
- Progressive developmental regression
- Severe hypotonia (muscle weakness)
- Epileptic seizures unresponsive to conventional treatments
- Leigh syndrome-like symptoms
- Family history of mitochondrial disorders
- Unexplained metabolic acidosis
- Failure to thrive despite adequate nutrition
Clinical Benefits of Early Diagnosis
Early genetic diagnosis through our ISCA2 gene testing provides numerous critical benefits:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents unnecessary medical procedures
- Targeted Treatment: Enables personalized management strategies for mitochondrial support
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps healthcare providers understand disease progression and expected outcomes
- Research Contribution: Advances scientific understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Indicates the presence of pathogenic ISCA2 mutations, confirming diagnosis of multiple mitochondrial dysfunctions syndrome type 4
- Negative Result: Suggests that ISCA2 gene mutations are not the cause of symptoms, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further research and family studies
All results are accompanied by detailed explanations and recommendations for next steps from our certified genetic counselors.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 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 |
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your family’s future. Our ISCA2 gene testing provides the clarity needed for informed medical decisions and personalized care planning. With advanced NGS technology and expert genetic counseling support, we deliver accurate, reliable results you can trust.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence.
