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SLC7A9 Gene Cystinuria NGS Genetic Test

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SLC7A9 Gene Cystinuria NGS Genetic Test

Short Name: Cystinuria NGS Test

Also known as: Cystine stones, SLC7A9-related cystinuria, Autosomal recessive cystinuria

SLC7A9 Gene Cystinuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the SLC7A9 gene that cause cystinuria, aiding in diagnosis, family planning, and management of the condition.

Test Code
2585
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or FTA card spot collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card spot.

Step 3

Report Delivery

Apply pressure to puncture site. Sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended. Provide detailed medical and family history.
2
During the Test:Sample collection and processing in laboratory.
3
After the Test:Results reviewed by geneticist. Follow-up counseling provided.

About This Test

Who Should Get This Test

To identify mutations in the SLC7A9 gene that cause cystinuria, aiding in diagnosis, family planning, and management of the condition.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for SLC7A9 gene mutations is essential for confirming cystinuria diagnosis and guiding personalized treatment plans to prevent kidney stone recurrence."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot collection

Sample Stability

Blood: 2-8°C for 48 hours
FTA card: Room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Incorrect labeling
  • Insufficient volume

Understanding Your Results

Results indicate presence or absence of pathogenic variants in SLC7A9 gene. Consult a genetic counselor for detailed interpretation.
Positive: Pathogenic variant detected, confirms cystinuria risk.
Negative: No pathogenic variants, but clinical symptoms may require further testing.
Variant of uncertain significance: May need additional studies.
⚠️ When to Consult a Doctor:

If symptoms persist or family history is positive, consult a nephrologist or geneticist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other causes of kidney stones

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Insufficient DNA yield

Compare With Similar Tests

TestSLC7A9 Gene Cystinuria NGS Genetic TestSLC3A1 Gene TestUrine Cystine TestKidney Stone Analysis
ComparisonSLC7A9 Gene Cystinuria NGS Genetic Test

Frequently Asked Questions

What is cystinuria?
Cystinuria is a genetic disorder that affects the transport of cystine in the kidneys, leading to the formation of cystine kidney stones.
What causes cystinuria?
Cystinuria is caused by mutations in genes like SLC7A9 or SLC3A1, which impair cystine reabsorption in the kidneys.
What are the symptoms of cystinuria?
Symptoms include recurrent kidney stones, urinary tract infections, blood in urine, abdominal pain, and foul-smelling urine.
How is cystinuria diagnosed?
Diagnosis involves genetic testing, such as NGS for the SLC7A9 gene, along with urine tests and imaging studies.
What is the SLC7A9 gene?
The SLC7A9 gene encodes a protein essential for cystine reabsorption in the kidneys; mutations can cause cystinuria.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a advanced method to analyze DNA sequences, identifying genetic mutations with high accuracy.
How accurate is the SLC7A9 gene test?
NGS-based testing is highly sensitive and specific, but results should be interpreted in clinical context.
What is the cost of the test in India?
The cost is INR 20,000 at DNA Labs India, with home sample collection available.
Is the test covered by insurance?
Genetic testing is not always covered by insurance; patients may need to pay out-of-pocket or check with their provider.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if I test positive?
Consult a genetic counselor or nephrologist for management strategies, including lifestyle changes and medications.
Can cystinuria be prevented or treated?
While not preventable, treatment focuses on preventing stone formation through hydration, diet, and medications like tiopronin.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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