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PEX19 Gene Zellweger syndrome NGS Genetic Test

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PEX19 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX19 Zellweger Syndrome Test

Also known as: Zellweger Syndrome Genetic Test, PEX19 Mutation Analysis

PEX19 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) Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose Zellweger syndrome by detecting mutations in the PEX19 gene using Next-Generation Sequencing (NGS) technology.

Test Code
1853
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
Yes
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required, but fasting may be indicated based on physician advice.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist or using an FTA card for finger prick, with minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store sample as directed for transport to the lab.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the implications of testing and obtain informed consent.
2
During the Test:Sample collection and processing for Next-Generation Sequencing (NGS) analysis in the laboratory.
3
After the Test:Results will be discussed with a genetic counselor or physician to guide further management.

About This Test

Who Should Get This Test

To diagnose Zellweger syndrome by detecting mutations in the PEX19 gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport to lab within specified stability period

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing is crucial for diagnosing Zellweger syndrome early and guiding management. Consult a genetic counselor for personalized advice."

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 or Finger prick

Sample Stability

Blood samples stable for 24-48 hours at room temperature
FTA cards stable for extended periods at ambient temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or lipemic samples
  • Improperly labeled or contaminated samples

Understanding Your Results

The test results indicate the presence or absence of pathogenic mutations in the PEX19 gene, which are associated with Zellweger syndrome.
📊

Pathogenic mutation detected

Consistent with a diagnosis of Zellweger syndrome; genetic counseling and clinical management recommended.

📊

No pathogenic mutation detected

No evidence of PEX19 gene-related Zellweger syndrome; consider other genetic or clinical causes.

📊

Variant of uncertain significance

Further testing, family studies, or clinical correlation may be needed to determine significance.

⚠️ When to Consult a Doctor:

If symptoms of Zellweger syndrome are present, such as seizures, poor muscle tone, developmental delays, or feeding difficulties, consult a healthcare provider immediately for genetic testing and evaluation.

Limitations

  • ⚠May not detect all genetic variants or structural changes
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Not a standalone diagnostic tool; must be used with clinical evaluation

Risks & Considerations

  • ●Slight pain or bruising at the blood collection site
  • ●Rare risk of infection or hematoma

Interfering Factors

  • ●Degraded DNA sample
  • ●Contaminated sample
  • ●Incorrect sample type or collection method

Frequently Asked Questions

What is Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder that affects the development of the brain, liver, and other organs, caused by mutations in genes like PEX19 involved in peroxisome biogenesis.
What causes Zellweger syndrome?
It is caused by mutations in genes such as PEX19, which are essential for the formation and function of peroxisomes in cells.
What are the symptoms of Zellweger syndrome?
Symptoms include seizures, poor muscle tone, developmental delays, feeding difficulties, hearing and vision loss, and jaundice.
How is Zellweger syndrome diagnosed?
Diagnosis involves genetic testing, such as the PEX19 Gene NGS Genetic Test, to identify mutations, along with clinical evaluation and imaging studies.
What is the PEX19 gene?
The PEX19 gene provides instructions for making a protein involved in peroxisome biogenesis, and mutations can lead to Zellweger syndrome.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing (NGS) technology to analyze the DNA for mutations in the PEX19 gene, providing detailed genetic information.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and genetic counseling services.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
Can the test be done for adults?
Yes, the test can be performed on individuals of all ages, though Zellweger syndrome is often diagnosed in infancy.
What if the test results are positive?
A positive result indicates a mutation in the PEX19 gene, and genetic counseling will be provided to discuss management and family implications.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but results should be interpreted in conjunction with clinical findings and genetic counseling.
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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✓ 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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