SLC25A20 Gene Carnitine-Acylcarnitine Translocase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to SLC25A20 Genetic Testing
The SLC25A20 Gene Carnitine-Acylcarnitine Translocase Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of mutations associated with carnitine-acylcarnitine translocase deficiency (CACTD). This inherited metabolic condition disrupts the body’s ability to transport fatty acids into mitochondria for energy production, potentially leading to severe health complications if left undiagnosed. Our advanced next-generation sequencing technology provides comprehensive analysis of the SLC25A20 gene, enabling early intervention and personalized treatment strategies for affected individuals and families.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the SLC25A20 gene located on chromosome 3, which encodes the carnitine-acylcarnitine translocase protein essential for mitochondrial fatty acid transport. The test identifies:
- Pathogenic variants and mutations in the SLC25A20 gene
- Single nucleotide polymorphisms affecting protein function
- Insertions, deletions, and frameshift mutations
- Compound heterozygous or homozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of fatty acid oxidation disorders, including:
- Unexplained hypoglycemia or metabolic crises
- Infants with feeding difficulties and lethargy
- Developmental delays or neurological abnormalities
- Family history of sudden infant death syndrome (SIDS)
- Elevated plasma carnitine levels or abnormal acylcarnitine profiles
- Recurrent episodes of hyperammonemia
- Cardiomyopathy or cardiac arrhythmias
- Muscle weakness and exercise intolerance
Significant Benefits of Genetic Testing
Undergoing the SLC25A20 genetic test provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt intervention before severe metabolic decompensation occurs
- Personalized Treatment: Guides dietary modifications and medical management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Preventive Care: Helps prevent life-threatening metabolic crises through proactive management
- Comprehensive Analysis: Utilizes state-of-the-art NGS technology for maximum accuracy
- Cost-Effective: Affordable testing at only $500 USD makes advanced diagnostics accessible
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results, which may include:
- Positive Result: Indicates pathogenic mutations in the SLC25A20 gene, confirming carnitine-acylcarnitine translocase deficiency diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations for next steps, including dietary management, medication considerations, and family screening options.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of your location.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of potential metabolic disorders. Our team of genetic specialists is ready to assist you with comprehensive testing and personalized guidance. Contact us today to schedule your SLC25A20 genetic test and take the first step toward understanding your genetic health.
Call or WhatsApp: +1(267) 388-9828 to book your test consultation and begin your journey to better health through advanced genetic diagnostics.
