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DNA Labs India

PREPL Gene Cystinuria NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PREPL Gene Cystinuria NGS Genetic Test

Also known as: PREPL Gene Cystinuria Test, Cystinuria Genetic Test

PREPL Gene Cystinuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose cystinuria by detecting mutations in the PREPL gene using next-generation sequencing (NGS) technology, aiding in accurate diagnosis and management of the condition.

Test Code
2578
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
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with cystinuria.

Method: Blood draw or DNA extraction

Step 2

Laboratory Analysis

Standard blood draw procedure or DNA extraction from provided sample.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Blood sample collection or DNA extraction is performed.
3
After the Test:Results are analyzed and reported within 3 to 4 weeks, with genetic counseling advised for interpretation.

About This Test

Who Should Get This Test

To diagnose cystinuria by detecting mutations in the PREPL gene using next-generation sequencing (NGS) technology, aiding in accurate diagnosis and management of the condition.

How to Prepare

  • Provide a blood sample or extracted DNA
  • Use FTA card for one drop blood if applicable
  • Ensure proper labeling and handling

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Consult with a genetic counselor for personalized advice on cystinuria management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or DNA extraction

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PREPL gene associated with cystinuria.
Negative result: No pathogenic variants detected, reducing likelihood of genetic cystinuria
Positive result: Pathogenic variants detected, confirming genetic predisposition to cystinuria
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

When experiencing symptoms of cystinuria, such as recurrent kidney stones or urinary issues, or if there is a family history of the condition.

Risks & Considerations

  • Minor bruising at the blood draw site
  • Psychological impact of genetic results

Frequently Asked Questions

What is cystinuria?
Cystinuria is a rare genetic disorder that affects the kidneys' ability to reabsorb cystine, leading to kidney stone formation.
What is the PREPL gene?
The PREPL gene is involved in amino acid transport, and mutations in this gene are associated with cystinuria.
What are the symptoms of cystinuria?
Common symptoms include frequent urination, painful urination, blood in the urine, recurrent urinary tract infections, and kidney stones.
How is cystinuria diagnosed?
Diagnosis involves physical exams, medical history, laboratory tests, and genetic testing such as the PREPL Gene Cystinuria NGS Genetic Test.
What is the PREPL Gene Cystinuria NGS Genetic Test?
It is a diagnostic test using next-generation sequencing to detect mutations in the PREPL gene associated with cystinuria.
How is the test performed?
The test analyzes a blood sample or extracted DNA using NGS technology to identify genetic mutations.
What is the cost of the test?
The cost at DNA Labs India is INR 20000.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the test results mean?
Results indicate the presence or absence of pathogenic mutations in the PREPL gene, helping diagnose cystinuria.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
Can this test be used for carrier screening?
Yes, it can identify carriers of PREPL gene mutations associated with cystinuria.
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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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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