DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test
Short Name: DECR1 Gene NGS Test
Also known as: DECR deficiency, 2,4-dienoyl-CoA reductase deficiency
DECR1 Gene 2,4-dienoyl-CoA reductase 1 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test is to identify mutations in the DECR1 gene that cause 2,4-dienoyl-CoA reductase deficiency, a metabolic disorder affecting fatty acid breakdown. This test aids in accurate diagnosis, guiding treatment decisions, and facilitating genetic counseling for patients and their families.
- Test Code
- 4614
- 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
Sample Collection
A certified phlebotomist visits your home or you visit our nearest center. The process takes under 5 minutes.
Laboratory Analysis
Your sample is analyzed using NGS Technology in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 weeks
About This Test
Who Should Get This Test
The purpose of the DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test is to identify mutations in the DECR1 gene that cause 2,4-dienoyl-CoA reductase deficiency, a metabolic disorder affecting fatty acid breakdown. This test aids in accurate diagnosis, guiding treatment decisions, and facilitating genetic counseling for patients and their families.
How to Prepare
- For blood sample: Standard venipuncture procedure under sterile conditions.
- For extracted DNA or FTA card: Follow specific guidelines provided by the laboratory.
- Ensure proper labeling and handling to avoid sample mix-up or contamination.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for diagnosing DECR deficiency, a rare genetic disorder that impairs fatty acid metabolism, leading to neurological and metabolic symptoms. Early detection through NGS allows for targeted management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic mutations
Confirms diagnosis of 2,4-dienoyl-CoA reductase deficiency. Clinical correlation and further management are recommended.
Negative for pathogenic mutations
No mutations detected in the DECR1 gene. Symptoms may be due to other causes; additional testing may be considered.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unclear. Genetic counseling and follow-up testing may be advised.
Consult a healthcare provider if you or a family member experience symptoms such as muscle weakness, fatigue, developmental delays, seizures, or respiratory problems, especially with a family history of metabolic disorders. A medical geneticist or metabolic specialist can guide testing and management.
Limitations
- ⚠This test only analyzes the DECR1 gene and may not detect mutations in other genes causing similar symptoms.
- ⚠It does not assess for all metabolic disorders; additional tests may be needed.
- ⚠Results may require confirmation with other methods in some cases.
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Rare risk of infection from needle stick
- ●Emotional impact of genetic test results
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Technical errors in sequencing process
Frequently Asked Questions
What is the DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test?
What are the symptoms of DECR1 gene disorder?
Who should consider this genetic test?
How is the test performed?
What is the cost of the DECR1 Gene NGS Genetic Test?
Is fasting required before the test?
How long does it take to get the results?
What does a positive test result mean?
Are there any risks associated with the test?
Can this test be done at home?
What treatments are available for DECR deficiency?
Is genetic counseling recommended before or after the test?
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Reference Laboratory Services
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