SLC7A9 Gene Cystinuria NGS Genetic DNA Test
Comprehensive Genetic Analysis for Cystinuria Diagnosis
The SLC7A9 Gene Cystinuria NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary kidney stone disorders. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify specific mutations in the SLC7A9 gene, which plays a critical role in amino acid transport within the kidneys. Cystinuria is an autosomal recessive disorder characterized by impaired renal tubular reabsorption of cystine and other dibasic amino acids, leading to recurrent kidney stone formation and potential renal damage if left untreated.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the SLC7A9 gene, which encodes the b0,+AT protein subunit of the renal amino acid transporter system. The test detects:
- Pathogenic variants and mutations in the SLC7A9 gene
- Single nucleotide polymorphisms associated with cystinuria
- Insertions, deletions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel genetic variants with clinical significance
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Recurrent kidney stones, particularly in childhood or adolescence
- Family history of cystinuria or kidney stone disorders
- Early-onset nephrolithiasis (before age 30)
- Radiographic evidence of multiple or bilateral kidney stones
- Urinary cystine crystals detected in urine analysis
- Unexplained renal colic or urinary tract obstructions
- Planning for pregnancy with family history of cystinuria
Benefits of Genetic Testing for Cystinuria
Undergoing the SLC7A9 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms cystinuria diagnosis beyond urinary cystine measurements
- Personalized Treatment: Guides targeted therapeutic interventions and medication selection
- Preventive Strategies: Enables early intervention to prevent stone recurrence and renal damage
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease severity and progression patterns
- Cost-Effective Management: Reduces long-term healthcare costs through targeted prevention
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our expert genetic counselors:
- Positive Result: Identification of pathogenic mutations confirms cystinuria diagnosis and enables targeted management
- Negative Result: Absence of known pathogenic variants suggests alternative causes for symptoms
- Variant of Uncertain Significance: Novel genetic changes requiring further clinical correlation
- Carrier Status: Identification of single mutation carriers with implications for family members
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SLC7A9 Gene Cystinuria 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of previous kidney stone episodes and treatments
- Urinary analysis results when available
- Informed consent for genetic testing
Nationwide Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 ensures accessible genetic testing services regardless of your location.
Take Control of Your Health Today
Don’t let recurrent kidney stones compromise your quality of life. The SLC7A9 Gene Cystinuria NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Our team of genetic specialists, nephrologists, and counselors are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward personalized care and effective cystinuria management.
