SLC22A5 Gene Carnitine Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The SLC22A5 Gene Carnitine Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of genetic mutations that cause primary carnitine deficiency. This condition, also known as systemic primary carnitine deficiency, results from defects in the SLC22A5 gene that encodes the organic cation transporter 2 (OCTN2), crucial for carnitine transport across cell membranes. Without proper carnitine function, the body cannot effectively transport long-chain fatty acids into mitochondria for energy production, leading to potentially severe metabolic complications.
What This Advanced Genetic Test Measures
Our NGS-based genetic test specifically analyzes the SLC22A5 gene to identify pathogenic variants, including:
- Point mutations affecting carnitine transporter function
- Insertions and deletions disrupting gene integrity
- Missense and nonsense mutations altering protein structure
- Splice site variants affecting mRNA processing
- Copy number variations impacting gene dosage
Who Should Consider This Genetic Screening
This test is particularly recommended for individuals experiencing:
- Unexplained muscle weakness or fatigue
- Recurrent episodes of hypoglycemia
- Cardiomyopathy or heart rhythm abnormalities
- Developmental delays in children
- Family history of metabolic disorders
- Infants with feeding difficulties and lethargy
- Individuals with elevated liver enzymes
- Those with previously unexplained metabolic crises
Significant Benefits of Early Detection
Early identification through our SLC22A5 genetic test provides numerous advantages:
- Enables timely carnitine supplementation therapy
- Prevents metabolic crises and hospitalizations
- Reduces risk of sudden cardiac death
- Allows for personalized dietary management
- Facilitates family planning and genetic counseling
- Provides clarity for unexplained medical symptoms
- Supports proactive health management strategies
Understanding Your Genetic Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic variants requiring immediate medical follow-up and carnitine supplementation
- Negative Result: Suggests no detected mutations in the SLC22A5 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | SLC22A5 Gene Carnitine 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 |
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 extensive network ensures that advanced genetic testing is accessible to everyone seeking answers about metabolic health.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our SLC22A5 Gene Carnitine Deficiency NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Early detection can prevent serious complications and guide effective treatment strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your metabolic health.
