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DNA Labs India

ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic Test

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ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic Test

Also known as: ACAD8 deficiency test, Isobutyryl-CoA dehydrogenase deficiency genetic test

ACAD8 Gene Isobutyryl-CoA 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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the ACAD8 gene responsible for Isobutyryl-CoA dehydrogenase deficiency, enabling early diagnosis, genetic counseling, and appropriate management to prevent severe health complications.

Test Code
4714
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS, Next Generation Sequencing
Step 1

Sample Collection

A clinical history review and genetic counseling session are recommended to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS, Next Generation Sequencing in our laboratory.

Step 3

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

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling if recommended.
2
During the Test:A blood sample will be collected via venipuncture.
3
After the Test:Apply pressure to the puncture site to prevent bruising. Results will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the ACAD8 gene responsible for Isobutyryl-CoA dehydrogenase deficiency, enabling early diagnosis, genetic counseling, and appropriate management to prevent severe health complications.

How to Prepare

  • Ensure proper sample labeling
  • Avoid hemolysis during blood collection
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"Genetic testing for ACAD8 deficiency is vital for families with a history of metabolic disorders. Early intervention can significantly improve outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood

Sample Stability

Blood sample stable at 2-8°C for up to 48 hours
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ACAD8 gene, which are associated with Isobutyryl-CoA dehydrogenase deficiency.
Positive: Pathogenic variant detected, confirming diagnosis of Isobutyryl-CoA dehydrogenase deficiency
Negative: No pathogenic variant detected, but clinical correlation is advised if symptoms persist
Variant of uncertain significance: Further testing or family studies may be required for clarification
⚠️ When to Consult a Doctor:

If you or your child experience symptoms like low energy, vomiting, developmental delays, or seizures, or if there is a family history of metabolic disorders, consult a healthcare professional promptly.

Limitations

  • May not detect all types of genetic variants
  • Results should be interpreted in conjunction with clinical findings

Risks & Considerations

  • Minor bruising at the puncture site
  • Rare risk of infection

Interfering Factors

  • Sample contamination
  • Degraded DNA quality

Frequently Asked Questions

What is ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency?
It is a rare genetic disorder caused by mutations in the ACAD8 gene, leading to deficiency of the enzyme isobutyryl-CoA dehydrogenase, which impairs amino acid breakdown.
What are the common symptoms of this deficiency?
Symptoms include low energy levels, poor appetite, vomiting, dehydration, muscle weakness, developmental delays, seizures, and coma.
How is the NGS Genetic Test performed?
The test uses Next Generation Sequencing technology to analyze a blood sample for mutations in the ACAD8 gene.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of pathogenic variants in the ACAD8 gene, confirming Isobutyryl-CoA dehydrogenase deficiency.
What should I do if there is a family history of this disorder?
Consult a healthcare professional for genetic counseling and consider testing for early detection.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider for details.
Can the test be done for newborns?
Yes, the test can be performed on individuals of all ages, including newborns, especially if indicated by symptoms or screening.
What is the accuracy of the NGS test?
NGS technology provides high accuracy in detecting genetic mutations, but results should be interpreted clinically.
How do I prepare for the test?
No special preparation is required, but providing a detailed clinical history and undergoing genetic counseling is recommended.
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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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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