PEPD Gene Prolidase deficiency NGS Genetic Test
Short Name: PEPD Gene Test
Also known as: Prolidase Deficiency Test, PEPD Deficiency Genetic Test, Prolidase Enzyme Disorder NGS
PEPD Gene Prolidase deficiency 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose PEPD Gene Prolidase Deficiency by detecting mutations in the PEPD gene using NGS technology. It confirms the genetic basis of symptoms, helps assess disease severity, guides treatment plans, and informs family planning through genetic counseling.
- Test Code
- 2216
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- Yes (8 hours)
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Patient should provide clinical history and genetic counseling session to draw a pedigree chart. Fasting for 8 hours is recommended prior to blood sample collection.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample is collected via venipuncture or a drop on FTA card by a trained phlebotomist. Minimal discomfort is expected.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities. Sample is sent to the laboratory for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose PEPD Gene Prolidase Deficiency by detecting mutations in the PEPD gene using NGS technology. It confirms the genetic basis of symptoms, helps assess disease severity, guides treatment plans, and informs family planning through genetic counseling.
How to Prepare
- Fast for 8 hours before blood draw
- Avoid strenuous exercise before sample collection
- Inform healthcare provider of any medications
- Ensure proper identification and labeling of sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is recommended for individuals with symptoms like skin ulcers or developmental delays, especially with a family history of metabolic disorders. Early diagnosis can guide management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect sample container
- Contaminated or degraded DNA
Understanding Your Results
Mutation Detected
Confirms PEPD Gene Prolidase Deficiency. Severity correlates with mutation type. Genetic counseling recommended.
No Mutation Detected
PEPD gene mutations not identified. Consider other metabolic disorders or repeat testing if clinical suspicion remains high.
Consult a healthcare provider if symptoms like skin ulcers or developmental delays persist, or for guidance on test results and management options.
Limitations
- ⚠May not detect all possible mutations in the PEPD gene
- ⚠Results require interpretation by a genetic counselor or healthcare provider
- ⚠Test does not assess enzyme activity directly
- ⚠Limited to known variants in databases; novel mutations may need further validation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Emotional impact of genetic results; counseling provided
Interfering Factors
- ●Sample contamination
- ●Incorrect sample type or volume
- ●Recent blood transfusions may affect DNA quality
- ●Hemolyzed or degraded DNA samples
Frequently Asked Questions
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