SLC25A15 Gene Hyperornithinemia Hyperammonemia Homocitrullinuria Syndrome NGS Genetic DNA Test
Understanding This Critical Metabolic Disorder Test
The SLC25A15 Gene Hyperornithinemia Hyperammonemia Homocitrullinuria Syndrome NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This comprehensive genetic analysis targets the SLC25A15 gene, which plays a crucial role in the urea cycle – the body’s primary mechanism for eliminating toxic ammonia. When this gene malfunctions, it leads to Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, a rare but serious inherited metabolic condition that can cause severe neurological damage if left undiagnosed.
What This Advanced Genetic Test Detects
Our NGS Genetic DNA Test specifically identifies mutations in the SLC25A15 gene that disrupt the mitochondrial ornithine transporter. This vital protein facilitates the movement of ornithine into mitochondria, where it participates in the urea cycle. When this transport system fails, three key metabolic abnormalities occur:
- Hyperornithinemia: Elevated ornithine levels in blood
- Hyperammonemia: Dangerous accumulation of ammonia in the bloodstream
- Homocitrullinuria: Presence of homocitrulline in urine
The test utilizes Next-Generation Sequencing technology to comprehensively analyze the entire SLC25A15 gene, detecting even subtle mutations that might be missed by conventional testing methods.
Who Should Consider This Genetic Screening?
This test is particularly important for individuals displaying symptoms suggestive of urea cycle disorders or those with family histories of metabolic conditions. Key indicators include:
- Infants and children with unexplained vomiting, lethargy, or feeding difficulties
- Individuals experiencing recurrent episodes of confusion or disorientation
- Patients with developmental delays or intellectual disabilities of unknown origin
- Those with seizures not explained by other neurological conditions
- Individuals with family members diagnosed with HHH syndrome or other urea cycle disorders
- Newborns showing abnormal newborn screening results for metabolic disorders
Significant Benefits of Early Detection
Early diagnosis through our SLC25A15 genetic test provides numerous critical advantages:
- Timely Intervention: Enables prompt treatment to prevent ammonia toxicity and neurological damage
- Personalized Treatment Plans: Guides dietary modifications and medication strategies
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decisions
- Prevention of Crises: Helps avoid life-threatening metabolic decompensation episodes
- Improved Quality of Life: Supports better long-term management and outcomes
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results accurately:
- Positive Result: Indicates the presence of SLC25A15 gene mutations. Our genetic counselors will explain the specific mutation and its implications for treatment and family planning.
- Negative Result: Suggests no detectable mutations in the SLC25A15 gene, though other metabolic disorders may need consideration.
- Variant of Uncertain Significance: Some genetic changes require additional family studies for proper interpretation.
All results come with detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SLC25A15 Gene Hyperornithinemia Hyperammonemia Homocitrullinuria Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide 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 collection centers ensures easy access to this vital genetic testing service.
Take Action for Your Health Today
Don’t wait to get the answers you need for proper diagnosis and treatment of potential metabolic disorders. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SLC25A15 Genetic DNA Test and take the first step toward comprehensive metabolic health management.
