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ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic Test

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ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic Test

Short Name: ACOX1 Gene Test

Also known as: Peroxisomal Acyl-CoA Oxidase Deficiency, ACOX1 Deficiency, ACOX1 Gene Mutation

ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (if needed) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the ACOX1 gene that cause acyl-CoA peroxisomal oxidase deficiency, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
1499
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger Sequencing (if needed)
Step 1

Sample Collection

No specific preparation required. Ensure accurate patient identification and clinical history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn from a vein in the arm using standard phlebotomy techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the bandage on for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Bring clinical history and any previous test reports. Genetic counseling may be recommended.
2
During the Test:A blood sample is collected and sent for NGS analysis.
3
After the Test:Results are shared with the referring physician. Follow-up counseling may be needed.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the ACOX1 gene that cause acyl-CoA peroxisomal oxidase deficiency, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Fast not required
  • Stay hydrated
  • Inform about any medications or supplements

Doctor's Notes

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

"This genetic test is essential for diagnosing rare peroxisomal disorders, allowing for early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
For longer stability, refrigerate at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Normal result: No pathogenic variants detected in the ACOX1 gene
Abnormal result: Pathogenic or likely pathogenic variants identified, confirming diagnosis
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

If symptoms suggestive of peroxisomal disorder are present, or if family history is positive, consult a geneticist or neurologist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance may require further analysis
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, pain, or infection at puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Frequently Asked Questions

What is ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency?
It is a rare genetic disorder affecting fatty acid breakdown due to mutations in the ACOX1 gene.
What are the symptoms of this condition?
Symptoms include developmental delay, seizures, hypotonia, liver problems, and respiratory difficulties.
How is the ACOX1 Gene Test performed?
It uses Next Generation Sequencing (NGS) to analyze the ACOX1 gene from a blood sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home collection is offered across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Who should undergo this test?
Individuals with symptoms of peroxisomal disorder or a family history of the condition.
What sample is required?
A blood sample of about 5 mL.
Are there any risks associated with the test?
The test involves a blood draw, which has minimal risks like bruising or infection.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting gene mutations, but interpret results with clinical context.
What does a positive result mean?
It confirms a diagnosis of ACOX1 deficiency, guiding treatment and counseling.
How should I prepare for the test?
No special preparation is needed; bring medical history and follow sample collection instructions.
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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