SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced screening utilizes Next-Generation Sequencing technology to identify mutations in the SLC25A13 gene, which plays a critical role in the urea cycle and mitochondrial function. Citrin deficiency, caused by SLC25A13 gene mutations, leads to impaired ammonia metabolism and can result in serious neurological and hepatic complications if left undiagnosed.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the SLC25A13 gene to identify pathogenic variants associated with citrin deficiency. The test examines:
- Complete sequencing of the SLC25A13 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants linked to citrin deficiency
- Assessment of carrier status for autosomal recessive inheritance
- Evaluation of genetic markers for neonatal intrahepatic cholestasis
Who Should Consider This Test
This genetic screening is recommended for individuals presenting with:
- Unexplained hyperammonemia or elevated blood ammonia levels
- Neonatal intrahepatic cholestasis with unknown etiology
- Family history of citrin deficiency or metabolic disorders
- Neurological symptoms including seizures, developmental delay, or cognitive impairment
- Liver dysfunction without clear cause
- Dietary protein intolerance or unusual food preferences
- Suspected urea cycle disorders
Key Benefits of Genetic Testing
Early detection through SLC25A13 gene testing provides numerous advantages:
- Early Intervention: Enables proactive management before severe symptoms develop
- Personalized Treatment: Guides dietary modifications and medication strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents misdiagnosis
- Improved Outcomes: Reduces risk of neurological damage and liver complications
- Cost-Effective: Prevents unnecessary medical procedures and hospitalizations
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical professionals. Possible outcomes include:
- Positive Result: Indicates the presence of pathogenic SLC25A13 gene mutations confirming citrin deficiency diagnosis
- Negative Result: No detected mutations, significantly reducing likelihood of citrin deficiency
- Variant of Uncertain Significance: Identified genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene without disease symptoms
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Option | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
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 testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders impact your quality of life. Early detection through SLC25A13 gene testing can provide life-changing insights and enable proactive health management. Our team of genetic specialists is 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 SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test and take the first step toward comprehensive genetic health assessment.
Note: This test requires a genetic counseling session prior to testing and clinical history documentation. Sample collection options include blood, extracted DNA, or one drop of blood on FTA card. Results are typically available within 3-4 weeks.
