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NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic Test

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NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic Test

Short Name: NADK2 Gene NGS Test

Also known as: 2,4-dienoyl-CoA reductase deficiency, NADK2 gene deficiency

NADK2 Gene 2,4-dienoyl-CoA reductase 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.

Next-Generation Sequencing (NGS) Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose NADK2 gene mutations causing 2,4-dienoyl-CoA reductase deficiency for accurate clinical management and genetic counseling.

Test Code
4615
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended. Provide clinical history of patient and family.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample sent to laboratory for analysis. Reports delivered in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report generation, delivery, and follow-up counseling.

About This Test

Who Should Get This Test

To diagnose NADK2 gene mutations causing 2,4-dienoyl-CoA reductase deficiency for accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Use provided collection kits

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic counseling is essential for families affected by this condition to understand inheritance patterns, management options, and family planning implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the NADK2 gene.
📊

Mutation detected

Consistent with 2,4-dienoyl-CoA reductase deficiency. Consult genetic counselor for management and family planning.

📊

No mutation detected

Unlikely to have the condition based on genetic testing, but clinical correlation is recommended.

⚠️ When to Consult a Doctor:

If symptoms suggestive of metabolic disorder are present, or for family planning if carrier status is identified.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic results

Interfering Factors

  • Poor DNA quality
  • Sample contamination

Compare With Similar Tests

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ComparisonNADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic Test

Frequently Asked Questions

What is NADK2 Gene 2,4-dienoyl-CoA reductase deficiency?
It is a rare autosomal recessive genetic disorder affecting fatty acid metabolism, caused by mutations in the NADK2 gene.
What are the common symptoms of this disorder?
Symptoms include developmental delay, hypotonia, seizures, intellectual disability, white matter abnormalities, poor feeding and growth, and abnormal liver function tests.
How is NADK2 Gene deficiency diagnosed?
Diagnosis involves clinical symptoms, biochemical testing for fatty acid metabolites, and genetic testing to identify NADK2 mutations.
What does the NGS Genetic Test for NADK2 involve?
It uses next-generation sequencing to analyze the entire coding and adjacent non-coding regions of the NADK2 gene for mutations.
What is the cost of the NADK2 Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available for this test?
Yes, free home sample collection is available in many cities across India.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What should I do before taking the test?
A genetic counseling session is recommended to review clinical history and draw a pedigree chart.
How accurate is the NGS Genetic Test?
The test can detect mutations in up to 99% of cases, making it highly accurate.
What if the test shows a mutation in the NADK2 gene?
Consult a genetic counselor or healthcare provider for management options, family planning, and further guidance.
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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