ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic Test
Short Name: Hyperprolinemia Type 2 Genetic Test
Also known as: Hyperprolinemia type 2, ALDH4A1 gene disorder, P5CDH deficiency
ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood 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 the ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic Test is to identify mutations in the ALDH4A1 gene to diagnose Hyperprolinemia Type 2. This helps in confirming the disorder in individuals with symptoms or a family history, guiding treatment decisions, and enabling genetic counseling for family planning.
- Test Code
- 2104
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and family pedigree chart. Ensure genetic counseling session is completed.
Method: Venipuncture
Laboratory Analysis
Blood sample will be collected via venipuncture by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as per instructions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic Test is to identify mutations in the ALDH4A1 gene to diagnose Hyperprolinemia Type 2. This helps in confirming the disorder in individuals with symptoms or a family history, guiding treatment decisions, and enabling genetic counseling for family planning.
How to Prepare
- Clinical history of patient must be provided
- Genetic counseling session to draw pedigree chart of affected family members
- No fasting required, but avoid strenuous activity before sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Hyperprolinemia Type 2 is essential for families with a history of metabolic disorders to enable early intervention and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in incorrect container
- Leaked or contaminated sample
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Hyperprolinemia Type 2. Genetic counseling and symptom management recommended.
No pathogenic variant detected
ALDH4A1 gene mutations not found. Consider other differential diagnoses or repeat testing if clinical suspicion remains.
Variant of uncertain significance
Further testing or family studies may be required to determine clinical relevance.
Consult a geneticist or metabolic specialist if you have symptoms of developmental delay, seizures, or family history of Hyperprolinemia, especially after receiving test results.
Limitations
- ⚠Detects only known mutations in the ALDH4A1 gene
- ⚠May not identify rare or novel variants
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minor pain or bruising at blood draw site
- ●Very low risk of infection
Interfering Factors
- ●Hemolyzed blood sample
- ●Insufficient DNA quantity
- ●Contaminated sample
Compare With Similar Tests
| Test | ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic Test | Metabolic Disorder Genetic Panel | P5CDH Enzyme Assay |
|---|---|---|---|
| Comparison | ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic Test |
Frequently Asked Questions
What is ALDH4A1 Gene Hyperprolinemia Type 2?
What are the common symptoms of Hyperprolinemia Type 2?
How is Hyperprolinemia Type 2 diagnosed?
What is the cost of the ALDH4A1 Gene Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
Is there a cure for Hyperprolinemia Type 2?
Who should consider this genetic test?
What does a positive test result mean?
What if the test result is negative?
Is genetic counseling recommended before or after the test?
Can this test be done for prenatal diagnosis?
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