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PEPD Gene Prolidase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PEPD Gene Prolidase deficiency NGS Genetic Test

Short Name: PEPD Gene Test

Also known as: Prolidase Deficiency, PEPD Deficiency, Imidodipeptidase Deficiency

PEPD Gene Prolidase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card with One Drop Blood samples. Results in 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS 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 3, 2026

Overview

To diagnose prolidase deficiency by identifying mutations in the PEPD gene using advanced NGS technology, enabling early intervention and genetic counseling.

Test Code
2791
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card with One Drop Blood
Result Time
3-4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree. A genetic counseling session is recommended to draw a pedigree chart and discuss implications.

Method: Venipuncture or DNA extraction kit

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or DNA extracted from provided sample using standard protocols.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for analysis.

Timeline: 3-4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are essential. Provide clinical history and family pedigree.
2
During the Test:DNA extraction, library preparation, and sequencing using NGS technology in a certified laboratory.
3
After the Test:Data analysis, variant interpretation by geneticists, and report generation with recommendations.

About This Test

Who Should Get This Test

To diagnose prolidase deficiency by identifying mutations in the PEPD gene using advanced NGS technology, enabling early intervention and genetic counseling.

How to Prepare

  • No fasting required
  • Use aseptic technique for blood draw
  • Ensure correct labeling of samples
  • Follow kit instructions for FTA card or DNA extraction

Doctor's Notes

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

"This genetic test is vital for diagnosing prolidase deficiency in children with recurrent infections and skin abnormalities, aiding in early intervention and management."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card with One Drop Blood
Sample VolumeAs required for testing
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or DNA extraction kit

Sample Stability

Blood: 24 hours at room temperature
DNA: stable for several days if stored at 2-8°C or as per kit guidelines
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect or missing labeling
  • Contaminated sample

Understanding Your Results

Results are interpreted based on the presence and type of variants in the PEPD gene, correlated with clinical symptoms and family history.
Positive: Pathogenic variant detected, indicating prolidase deficiency; clinical correlation and management needed
Negative: No pathogenic variant detected, but symptoms may require further investigation
Variant of Uncertain Significance (VUS): Further testing, family studies, or functional assays recommended
⚠️ When to Consult a Doctor:

If you or a family member exhibit symptoms of prolidase deficiency, such as recurrent infections, skin issues, or developmental delays, consult a geneticist, pediatrician, or obstetrician-gynecologist for evaluation.

Limitations

  • ⚠May not detect all types of genetic mutations
  • ⚠Requires interpretation by a qualified geneticist
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results on patients and families

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection or processing

Compare With Similar Tests

TestPEPD Gene Prolidase deficiency NGS Genetic TestEnzyme Activity Test for ProlidaseSanger Sequencing
ComparisonPEPD Gene Prolidase deficiency NGS Genetic Test

Frequently Asked Questions

What is PEPD Gene Prolidase Deficiency?
It is a rare genetic disorder caused by mutations in the PEPD gene, leading to deficiency of the prolidase enzyme and impaired protein breakdown.
What are the common symptoms of Prolidase Deficiency?
Symptoms include delayed development, intellectual disability, recurrent infections, abnormal skin pigmentation, joint pain, increased sunburn susceptibility, and slow wound healing.
How is Prolidase Deficiency diagnosed?
Diagnosis involves genetic testing to identify PEPD gene mutations and enzyme activity testing to measure prolidase levels in blood or body fluids.
What is the cost of the NGS Genetic Test in India?
The cost is approximately INR 20,000 at DNA Labs India, which includes home sample collection and genetic counseling.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3-4 weeks from sample receipt.
Is the test covered by insurance?
Coverage varies; it is not typically covered by government schemes like PMJAY or CGHS, but check with private insurers.
What are the risks associated with the test?
Risks are minimal, primarily from blood draw, such as bruising. There may be psychological impacts from genetic results.
Who should consider taking this test?
Individuals with symptoms of prolidase deficiency, family history of the disorder, or those planning families with known carrier status.
How should I prepare for the test?
No fasting is required. Provide clinical history and undergo genetic counseling before sample collection.
What does a positive result mean?
A positive result indicates pathogenic variants in the PEPD gene, confirming prolidase deficiency, and requires clinical management and genetic counseling.
Is genetic counseling included with the test?
Yes, DNA Labs India includes a genetic counseling session to discuss results, implications, and family planning.
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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