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ACADVL Gene Acyl-CoA very long-chain dehydrogenase deficiency NGS Genetic Test

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ACADVL Gene Acyl-CoA very long-chain dehydrogenase deficiency NGS Genetic Test

Short Name: ACADVL Gene NGS Test

Also known as: VLCAD Deficiency, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

ACADVL Gene Acyl-CoA very long-chain dehydrogenase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestMale and FemaleAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect pathogenic mutations in the ACADVL gene for diagnosis of Acyl-CoA Very Long-Chain Dehydrogenase Deficiency, aiding in early intervention and management.

Test Code
1865
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counselling session to review clinical history and draw a pedigree chart of family members affected with VLCAD deficiency.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture in a sterile environment.

Step 3

Report Delivery

Sample is processed and sent to the lab for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counselling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection for NGS analysis.
3
After the Test:Report delivery with genetic counselling session to discuss results.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the ACADVL gene for diagnosis of Acyl-CoA Very Long-Chain Dehydrogenase Deficiency, aiding in early intervention and management.

How to Prepare

  • No fasting required
  • Bring valid ID and prescription
  • Inform about any medications or supplements
  • Ensure proper identification and labeling

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for VLCAD deficiency is crucial for early diagnosis and management, especially in families with a history of metabolic disorders. It helps in guiding treatment and genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample VolumeAs per lab requirement
ContainerEDTA vacutainer
Collection MethodVenipuncture

Sample Stability

Blood sample stable at ambient temperature for 24 hours
Follow lab-specific guidelines for stability
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect labeling or insufficient volume
  • Improper container used

Understanding Your Results

Results are interpreted based on the presence of mutations in the ACADVL gene, with genetic counselling recommended for understanding implications.
Positive for pathogenic variant: Confirms diagnosis, management initiated
Negative for pathogenic variant: Unlikely VLCAD deficiency, but clinical correlation needed
Variant of uncertain significance (VUS): Requires further testing or family studies
Likely pathogenic variant: High suspicion, clinical correlation advised
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms such as muscle weakness, low blood sugar, or liver issues persist, or if there is a family history of metabolic disorders.

Limitations

  • May not detect deep intronic or regulatory region mutations
  • Variants of uncertain significance (VUS) may require further testing
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Possible discomfort during venipuncture

Interfering Factors

  • Poor sample quality or hemolysis
  • Contamination during collection
  • Improper storage or transport

Frequently Asked Questions

What is the ACADVL Gene NGS Genetic Test?
It is a genetic test using next-generation sequencing to detect mutations in the ACADVL gene, which causes VLCAD deficiency, a metabolic disorder.
What does the test detect?
The test identifies pathogenic variants in the ACADVL gene responsible for enzyme deficiency in fatty acid metabolism.
Who should take this test?
Individuals with symptoms like muscle weakness, low blood sugar, liver issues, or a family history of fatty acid oxidation disorders.
What are the symptoms of VLCAD deficiency?
Symptoms include muscle weakness, fatigue, low blood sugar, liver problems, heart abnormalities, and developmental delays.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the ACADVL gene for mutations.
What is the cost of the test in India?
The test costs INR 20,000, with free home collection available across India.
Is home sample collection available?
Yes, free home collection is offered in numerous cities across India for this test.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate presence or absence of mutations; genetic counselling is provided to interpret findings and guide management.
Is genetic counselling required?
Yes, genetic counselling is recommended before and after testing to understand implications for diagnosis and family planning.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising or discomfort.
How can I book the test?
You can book online through the DNA Labs India website or contact their support for assistance.
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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