CTNS Gene Cystinosis Nephropathic NGS Genetic DNA Test
Comprehensive Genetic Testing for Cystinosis Detection
The CTNS Gene Cystinosis Nephropathic NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for identifying nephropathic cystinosis, a rare autosomal recessive lysosomal storage disorder. This sophisticated test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the CTNS gene, which encodes cystinosin, a lysosomal membrane protein essential for cystine transport. When mutations occur in this critical gene, cystine accumulates within lysosomes, leading to progressive multi-organ damage that primarily affects the kidneys, eyes, and endocrine system.
What This Advanced Genetic Test Detects
Our CTNS Gene Cystinosis Test provides comprehensive detection of:
- Point mutations, deletions, and insertions in the CTNS gene
- All known pathogenic variants associated with nephropathic cystinosis
- Novel mutations through complete gene sequencing
- Carrier status for family members
- Genetic markers for disease severity prediction
Who Should Consider CTNS Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Infants and children with Fanconi syndrome symptoms
- Growth retardation and failure to thrive in early childhood
- Renal tubular dysfunction with polyuria and polydipsia
- Photophobia and corneal cystine crystal deposits
- Family history of cystinosis or consanguineous parents
- Unexplained rickets or metabolic acidosis
- Delayed puberty or endocrine abnormalities
Significant Benefits of Early Genetic Detection
Early diagnosis through CTNS genetic testing provides numerous advantages:
- Timely Intervention: Enables early initiation of cysteamine therapy to prevent organ damage
- Family Planning: Identifies carrier status for informed reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on specific mutations
- Prognostic Information: Helps predict disease progression and complications
- Cost-Effective Management: Reduces long-term healthcare costs through early intervention
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes:
- Positive Result: Indicates pathogenic mutations in both CTNS gene copies, confirming cystinosis diagnosis
- Carrier Status: Identifies individuals with one mutated CTNS gene copy who are asymptomatic carriers
- Negative Result: No pathogenic mutations detected, though rare mutations may not be identified
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Genetics, Hepatology, Nephrology, Endocrinology
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take Action for Better Health Outcomes
Early genetic testing for CTNS gene mutations can significantly impact treatment outcomes and quality of life for individuals with cystinosis. Our comprehensive genetic counseling services ensure you understand your results and their implications for your health and family planning.
Ready to schedule your CTNS Gene Cystinosis Nephropathic NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward accurate diagnosis and personalized treatment planning.
