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PEX2 Gene Zellweger syndrome NGS Genetic Test

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PEX2 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX2 Gene NGS Test

Also known as: Zellweger syndrome genetic test, PEX2 mutation analysis

PEX2 Gene Zellweger syndrome 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)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Zellweger syndrome by detecting mutations in the PEX2 gene using NGS technology, enabling early intervention and management.

Test Code
1852
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

No special preparation required; genetic counseling is recommended.

Method: Venipuncture for blood, FTA card collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a saliva sample collected.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding; minimal aftercare needed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss implications and family history.
2
During the Test:Non-invasive sample collection with minimal discomfort.
3
After the Test:Results will be delivered online in 3 to 4 weeks; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

To diagnose Zellweger syndrome by detecting mutations in the PEX2 gene using NGS technology, enabling early intervention and management.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Follow standard phlebotomy or saliva collection procedures

Doctor's Notes

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

"Early diagnosis through genetic testing is vital for managing Zellweger syndrome symptoms and planning care for affected individuals and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood, FTA card collection

Sample Stability

Room Temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PEX2 gene associated with Zellweger syndrome.
📊

Positive for pathogenic variant

Diagnosis of Zellweger syndrome likely; genetic counseling and specialist referral recommended.

📊

Negative for pathogenic variant

Zellweger syndrome due to PEX2 mutation unlikely; consider other genetic causes if symptoms persist.

📊

Variant of uncertain significance

Further testing, clinical correlation, or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms of Zellweger syndrome are present or if there is a family history of the disorder.

Limitations

  • ⚠Test only covers PEX2 gene; other genes involved in Zellweger syndrome may not be detected
  • ⚠Results should be interpreted in clinical context with other diagnostic findings

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder that affects peroxisome formation, leading to problems with fatty acid processing and causing symptoms like poor muscle tone and developmental delays.
What is the role of the PEX2 gene?
The PEX2 gene provides instructions for a protein involved in peroxisome formation; mutations can disrupt peroxisome function, leading to Zellweger syndrome.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing technology to analyze the PEX2 gene from a blood or saliva sample collected non-invasively.
What is the cost of the PEX2 gene test?
The test costs INR 20,000 at DNA Labs India, which includes home sample collection services.
Who should consider getting tested?
Individuals with a family history of Zellweger syndrome, those with symptoms such as poor muscle tone or developmental delays, and newborns for early screening.
What are the symptoms of Zellweger syndrome?
Symptoms include poor muscle tone, developmental delays, seizures, vision and hearing problems, and liver dysfunction.
Is the test painful or invasive?
The test is non-invasive, involving a simple blood draw or saliva collection, with minimal discomfort.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What if the test results are positive?
A positive result suggests a diagnosis of Zellweger syndrome; genetic counseling and consultation with a specialist are recommended for management.
Are there any risks associated with the test?
Risks are minimal, such as bruising or infection from blood draw, but generally safe.
How can I prepare for the test?
No special preparation is needed; genetic counseling is advised to understand the test implications.
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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For Hospitals & Clinics

Reference Laboratory Services

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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