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PEX26 Gene Zellweger syndrome NGS Genetic Test

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PEX26 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX26 Gene Zellweger Syndrome NGS Test

Also known as: Zellweger Syndrome Genetic Test, PEX26 Gene Analysis, Peroxisome Biogenesis Disorder Test

PEX26 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 samples. Results in 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestAll ages, typically diagnosed in infancy🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Zellweger syndrome by identifying mutations in the PEX26 gene using Next-Generation Sequencing (NGS) technology, aiding in early detection, management, and genetic counseling.

Test Code
1860
Price
₹20,000
Sample Type
Blood or Extracted DNA
Result Time
3-4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications, health conditions, or previous genetic tests.

Method: Venipuncture blood draw

Step 2

Laboratory Analysis

A trained phlebotomist will perform a blood draw, typically from a vein in the arm. The process involves minimal discomfort and takes a few minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities immediately. Store the sample as per instructions if self-collected.

Timeline: 3-4 weeks from sample receipt

Patient Instructions

1
Before the Test:Consult with a genetic counselor or neurologist to discuss the test purpose, implications, and obtain informed consent. Provide detailed clinical and family history.
2
During the Test:The test involves DNA extraction from the blood sample followed by Next-Generation Sequencing (NGS) analysis in a certified laboratory. The process is automated and highly accurate.
3
After the Test:Results are reviewed by a geneticist and compiled into a clinical report. A genetic counselor may help interpret the findings and recommend next steps.

About This Test

Who Should Get This Test

To diagnose Zellweger syndrome by identifying mutations in the PEX26 gene using Next-Generation Sequencing (NGS) technology, aiding in early detection, management, and genetic counseling.

How to Prepare

  • Ensure proper labeling of sample with patient details
  • Transport sample at room temperature in a secure container
  • Follow lab instructions for DNA extraction if using extracted DNA
  • Avoid hemolysis by handling sample gently

Doctor's Notes

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

"Early genetic testing for Zellweger syndrome can guide management, family counseling, and improve outcomes through timely intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA
Sample Volume3-5 mL blood or as per lab protocol
ContainerEDTA tube or FTA card
Collection MethodVenipuncture blood draw

Sample Stability

Blood sample stable for up to 24 hours at room temperature
Extracted DNA stable for several days if stored properly
FTA card samples stable for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume or improper container
  • Incorrect sample type or labeling errors

Understanding Your Results

The interpretation of the PEX26 Gene Zellweger Syndrome NGS Genetic Test results is based on the detection of genetic variants in the PEX26 gene, which are associated with Zellweger syndrome.
📊

Normal

No pathogenic variants detected in the PEX26 gene. Zellweger syndrome due to PEX26 mutations is unlikely, but clinical evaluation may be needed for other causes.

📊

Abnormal

Pathogenic variant(s) detected in the PEX26 gene, confirming a diagnosis of Zellweger syndrome. Genetic counseling and further management are recommended.

⚠️ When to Consult a Doctor:

If symptoms of Zellweger syndrome are present, such as poor muscle tone, seizures, or developmental delays, or if there is a family history of the disorder. Consult immediately after receiving abnormal test results for guidance on management and family planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or non-coding variants
  • ⚠Results require clinical correlation with patient symptoms and family history
  • ⚠Cannot determine disease severity or prognosis solely from genetic findings

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Psychological impact of receiving genetic diagnosis
  • ●Potential for uncertain or variants of unknown significance (VUS) results

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage
  • ●Insufficient sample volume or quality

Compare With Similar Tests

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Frequently Asked Questions

What is the PEX26 gene?
The PEX26 gene encodes a protein called peroxisomal biogenesis factor 26, which is essential for the formation of peroxisomes—cell organelles involved in metabolic processes like fatty acid breakdown and detoxification.
What is Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder caused by mutations in genes like PEX26, leading to dysfunctional peroxisomes. It affects multiple systems, including the brain, liver, and kidneys, and is life-threatening in severe cases.
What are the symptoms of Zellweger syndrome?
Symptoms include poor muscle tone, weak reflexes, seizures, developmental delays, vision and hearing problems, liver dysfunction, abnormal facial features, and respiratory difficulties, usually appearing in infancy.
How is Zellweger syndrome diagnosed?
Diagnosis involves physical examination, blood tests for abnormal compounds, brain imaging (MRI/CT), and genetic testing to identify mutations in genes like PEX26. NGS genetic testing is the most reliable method.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is a high-throughput technology that analyzes multiple genes simultaneously, providing accurate and comprehensive genetic variant detection for disorders like Zellweger syndrome.
What is the cost of the PEX26 Gene Zellweger Syndrome NGS Genetic Test in India?
The cost is INR 20,000 at DNA Labs India, which includes sample collection, analysis, and reporting. Free home collection is available across many cities in India.
How long does it take to get the test results?
Results are typically available within 3-4 weeks from the date of sample receipt. They are delivered via online portal, email, or WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India, ensuring convenience and accessibility.
Who should undergo this genetic test?
Individuals with symptoms of Zellweger syndrome, a family history of peroxisome biogenesis disorders, or those seeking confirmatory diagnosis or genetic counseling should consider this test.
What do the test results mean?
Normal results indicate no pathogenic variants in the PEX26 gene, making Zellweger syndrome unlikely due to this gene. Abnormal results confirm mutations, requiring clinical management and genetic counseling.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw (e.g., bruising). There may be psychological impacts from results, and some findings could be uncertain, necessitating further evaluation.
How can I book the test at DNA Labs India?
You can book online through the DNA Labs India website, call the provided number, or send a WhatsApp message. Include your details and choose home collection or walk-in options.
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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