PRODH Gene Hyperprolinemia type 1 NGS Genetic Test
Short Name: Hyperprolinemia Type 1 NGS Test
Also known as: PRODH deficiency test, Hyperprolinemia type 1 genetic screening
PRODH Gene Hyperprolinemia type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), DNA sequencing on Blood or Extracted DNA samples. Results in 3 to 4 weeks from sample collection. 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 the PRODH Gene Hyperprolinemia type 1 NGS Genetic Test is to provide a definitive diagnosis by detecting mutations in the PRODH gene associated with Hyperprolinemia type 1. This test helps in confirming the disorder in symptomatic individuals, guiding treatment decisions, and offering genetic counseling for families. It uses advanced NGS technology for high accuracy and can identify pathogenic variants that cause enzyme deficiency and proline accumulation.
- Test Code
- 2101
- ICD Code
- E72.51
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA
- Result Time
- 3 to 4 weeks from sample collection
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), DNA sequencing
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart. No fasting required.
Method: Venipuncture or blood drop collection
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by trained personnel.
Report Delivery
Sample labeled and transported to the lab at ambient room temperature. Await results in 3-4 weeks.
Timeline: 3 to 4 weeks from sample collection
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PRODH Gene Hyperprolinemia type 1 NGS Genetic Test is to provide a definitive diagnosis by detecting mutations in the PRODH gene associated with Hyperprolinemia type 1. This test helps in confirming the disorder in symptomatic individuals, guiding treatment decisions, and offering genetic counseling for families. It uses advanced NGS technology for high accuracy and can identify pathogenic variants that cause enzyme deficiency and proline accumulation.
How to Prepare
- Ensure proper identification of patient
- Use sterile equipment for blood draw
- Follow FTA card instructions if applicable
- Store sample at room temperature and avoid direct sunlight
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing via NGS is essential for confirming Hyperprolinemia type 1, guiding management, and providing family counseling for this rare metabolic disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolyzed or clotted
- Insufficient sample volume
- Incorrect labeling or container
- Leaking or damaged container
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Hyperprolinemia type 1. Recommend clinical correlation, genetic counseling, and management planning.
Variant of uncertain significance (VUS)
Genetic variant identified but significance unclear. Further family studies or functional analysis may be needed.
No pathogenic variant detected
No mutations found in PRODH gene. Clinical evaluation should continue to rule out other causes of symptoms.
Consult a geneticist or specialist after receiving results, especially if symptoms persist or for family planning advice. Seek immediate medical attention for severe symptoms like uncontrolled seizures.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Variants of uncertain significance (VUS) may require further investigation
- ⚠Test does not assess proline levels directly; complementary biochemical tests may be needed
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Emotional impact of genetic results
- ●No significant medical risks from the test itself
Interfering Factors
- ●Contaminated DNA sample
- ●Improper sample storage or handling
- ●Hemolyzed blood sample
- ●Recent blood transfusion
Compare With Similar Tests
| Test | PRODH Gene Hyperprolinemia type 1 NGS Genetic Test | Plasma Amino Acid Analysis | Urine Organic Acid Test | Sanger Sequencing | Metabolic Gene Panel |
|---|---|---|---|---|---|
| Comparison | PRODH Gene Hyperprolinemia type 1 NGS Genetic Test | Measures proline levels biochemically, but not genetic basis. | Assesses metabolic byproducts, may indicate metabolic disorders but not specific to Hyperprolinemia type 1. | Traditional sequencing method, less comprehensive than NGS for detecting multiple variants. | Includes multiple genes for metabolic disorders, broader scope but similar technology. |
Frequently Asked Questions
What is Hyperprolinemia type 1?
What are the common symptoms of Hyperprolinemia type 1?
How does the PRODH gene NGS test work?
What is the cost of this genetic test?
Is home sample collection available?
How long does it take to receive the test results?
What do the test results indicate?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the genetic test?
How accurate is the NGS genetic test?
What should I do before getting tested?
Where can I get this test done?
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