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PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test

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PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test

Short Name: PREPL Gene HCS NGS Test

Also known as: Hypotonia-Cystinuria Syndrome Genetic Test, PREPL Gene Test, HCS NGS Test

PREPL Gene Hypotonia-cystinuria syndrome 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

✍️ 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 diagnose Hypotonia-Cystinuria Syndrome by analyzing the PREPL gene for pathogenic mutations using NGS technology, aiding in clinical management and genetic counseling.

Test Code
2597
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collected via venipuncture or using an FTA card with one drop of blood.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Results are delivered in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample is collected and sent for NGS analysis of the PREPL gene.
3
After the Test:Results are interpreted by a genetic specialist, and a detailed report is provided.

About This Test

Who Should Get This Test

To diagnose Hypotonia-Cystinuria Syndrome by analyzing the PREPL gene for pathogenic mutations using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient clinical history is documented
  • Genetic counseling session recommended before testing
  • Sample can be blood, extracted DNA, or blood on FTA card

Doctor's Notes

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

"Genetic testing for Hypotonia-Cystinuria Syndrome can provide critical insights for personalized management and treatment planning, especially for kidney-related complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PREPL gene associated with Hypotonia-Cystinuria Syndrome.
Negative result: No pathogenic variants detected; clinical correlation recommended
Positive result: Pathogenic variant identified; genetic counseling and specialist referral advised
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of HCS are present, such as hypotonia, kidney stones, or developmental delays, or if genetic testing results are positive or uncertain.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Not a substitute for comprehensive clinical evaluation

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Sample degradation or contamination
  • ●Insufficient DNA quantity or quality
  • ●Technical errors in sequencing

Compare With Similar Tests

TestPREPL Gene Hypotonia-cystinuria syndrome NGS Genetic TestCystinuria Genetic PanelHypotonia Comprehensive Genetic TestAmino Acid Metabolism Disorder Panel
ComparisonPREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test

Frequently Asked Questions

What is Hypotonia-Cystinuria Syndrome?
Hypotonia-Cystinuria Syndrome (HCS) is a rare genetic disorder caused by mutations in the PREPL gene, leading to weak muscle tone, kidney stones, and other symptoms.
What causes HCS?
HCS is caused by mutations in the PREPL gene, which affects enzyme function involved in amino acid breakdown.
What are the symptoms of HCS?
Symptoms include hypotonia, movement difficulties, recurrent kidney stones, feeding issues, vomiting, and developmental delays.
How is HCS diagnosed?
Diagnosis involves genetic testing, such as the PREPL Gene NGS Test, to identify mutations in the PREPL gene.
What is the PREPL gene?
The PREPL gene provides instructions for making an enzyme involved in amino acid metabolism; mutations lead to HCS.
What does the NGS genetic test involve?
The test uses Next-Generation Sequencing to analyze the PREPL gene for pathogenic variants from a blood or DNA sample.
How much does the test cost?
The PREPL Gene Hypotonia-Cystinuria Syndrome NGS Genetic Test costs INR 20000 at DNA Labs India.
Is the test covered by insurance?
Some insurance plans may cover genetic testing; check with your provider for specific coverage details.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What should I do if the test is positive?
If positive, consult a genetic counselor or specialist for further management and treatment options.
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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