IBA57 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The IBA57 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial diseases. This advanced testing methodology provides crucial insights into one of the most complex and challenging areas of neurological genetics, offering hope and clarity to patients and families affected by mitochondrial dysfunction.
What is IBA57 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 3?
Multiple Mitochondrial Dysfunctions Syndrome Type 3 is a rare autosomal recessive disorder caused by mutations in the IBA57 gene. This gene plays a critical role in the assembly and maintenance of iron-sulfur clusters, which are essential components of mitochondrial respiratory chain complexes. When the IBA57 gene is compromised, it leads to severe mitochondrial dysfunction affecting multiple organ systems, particularly the nervous system.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic DNA test specifically targets:
- Complete sequencing of the IBA57 gene to identify pathogenic variants
- Detection of single nucleotide variants, insertions, and deletions
- Assessment of mitochondrial respiratory chain complex deficiencies
- Identification of autosomal recessive inheritance patterns
- Evaluation of iron-sulfur cluster biogenesis defects
Advanced NGS Technology
Utilizing state-of-the-art Next-Generation Sequencing technology, this test provides unparalleled accuracy in detecting even the most subtle genetic variations. The NGS platform enables comprehensive analysis of the entire IBA57 gene with high sensitivity and specificity, ensuring reliable results for clinical decision-making.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Progressive neurological deterioration in infancy or early childhood
- Developmental delay and regression of motor skills
- Hypotonia (low muscle tone) and muscle weakness
- Seizures and epileptic encephalopathy
- Leigh syndrome-like symptoms
- Metabolic acidosis and lactic acidosis
- Family history of mitochondrial disorders
- Unexplained multi-organ system involvement
Clinical Indications
Patients typically present within the first months of life with severe neurological symptoms, including encephalopathy, developmental arrest, and respiratory complications. Early diagnosis through genetic testing is crucial for appropriate management and family counseling.
Benefits of Taking the IBA57 Gene Test
- Definitive Diagnosis: Provides conclusive genetic confirmation of Multiple Mitochondrial Dysfunctions Syndrome Type 3
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to the growing understanding of mitochondrial disorders
- Insurance Support: Provides documented evidence for insurance coverage of specialized treatments
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the IBA57 gene, confirming the diagnosis of Multiple Mitochondrial Dysfunctions Syndrome Type 3. Our genetic counselors will provide detailed explanations of the specific mutations found and their clinical implications.
Negative Result
A negative result suggests that no pathogenic variants were detected in the IBA57 gene. However, this does not completely rule out mitochondrial disease, as other genetic causes may be involved. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
In some cases, genetic variations of unknown clinical significance may be identified. Our team provides ongoing monitoring and reclassification of these variants as new research emerges.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
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 network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about mitochondrial disorders delay proper diagnosis and treatment. Our specialized genetic testing provides the answers you need to make informed healthcare decisions. Contact our genetic counseling team today to schedule your test and begin your journey toward clarity and effective management.
Call or WhatsApp us now at +1(267) 388-9828 to book your IBA57 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 3 NGS Genetic DNA Test. Our compassionate team is ready to guide you through the testing process and provide the support you need during this important diagnostic journey.
