SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare mitochondrial disorders. This advanced test specifically targets the SLC25A3 gene, which encodes the mitochondrial phosphate carrier protein essential for cellular energy production. Mitochondrial phosphate carrier deficiency is a serious condition that disrupts the fundamental processes of cellular metabolism, leading to severe health complications primarily affecting the cardiovascular and respiratory systems.
What This Test Measures and Detects
Our comprehensive NGS genetic test analyzes the entire coding region of the SLC25A3 gene to identify pathogenic variants, including:
- Point mutations affecting protein function
- Insertions and deletions disrupting gene expression
- Missense mutations altering amino acid sequences
- Nonsense mutations causing premature stop codons
- Splice site variants affecting mRNA processing
The test provides complete sequencing coverage with high accuracy, detecting even rare genetic variations that may contribute to mitochondrial dysfunction.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Unexplained cardiomyopathy in infants or young children
- Progressive muscle weakness and exercise intolerance
- Metabolic acidosis without clear etiology
- Developmental delays accompanied by cardiac symptoms
- Family history of mitochondrial disorders
- Siblings of affected individuals for carrier screening
- Unexplained respiratory distress in neonates
- Multiple organ system involvement suggestive of mitochondrial disease
Significant Benefits of Genetic Testing
Undergoing the SLC25A3 genetic test provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out mitochondrial phosphate carrier deficiency
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for reproductive decisions
- Early Intervention: Facilitates proactive management of symptoms
- Genetic Counseling: Supports informed decision-making for at-risk relatives
- Research Contribution: Advances understanding of rare mitochondrial disorders
Understanding Your Test Results
Interpretation and Next Steps
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of pathogenic variants in the SLC25A3 gene, confirming mitochondrial phosphate carrier deficiency diagnosis
- Negative Result: Suggests that no disease-causing variants were detected in the SLC25A3 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results include comprehensive genetic counseling to help you understand the implications and develop an appropriate management plan.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency 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
We have diagnostic centers conveniently located across the United States, serving patients 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 genetic testing facilities ensures accessible, reliable testing for patients nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Our team of genetic specialists is ready to help you navigate this important genetic testing process. Contact us today to schedule your test and begin your journey toward better health management.
Call or WhatsApp: +1(267) 388-9828 to book your SLC25A3 Genetic DNA Test today!
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Referral from your cardiologist or primary care physician
Our comprehensive genetic testing services provide the clarity and confidence needed to make informed healthcare decisions for you and your family.
