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PEX13 Gene Zellweger syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PEX13 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX13 Gene NGS Test

Also known as: Zellweger Syndrome Genetic Test, PEX13 Mutation Analysis

PEX13 Gene Zellweger syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in Reports available in 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To confirm diagnosis of Zellweger syndrome by identifying mutations in the PEX13 gene, facilitate genetic counseling, and inform family planning decisions.

Test Code
1847
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
Reports available in 3 to 4 weeks after sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling and pedigree chart analysis recommended; provide clinical history of the patient.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed for DNA extraction and analyzed using NGS technology.

Timeline: Reports available in 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Genetic counseling session to discuss risks, benefits, and implications; review of clinical history and family pedigree.
2
During the Test:Blood sample collection; DNA extraction and NGS analysis performed in the laboratory.
3
After the Test:Report generation with interpretation; genetic counseling to discuss results and next steps.

About This Test

Who Should Get This Test

To confirm diagnosis of Zellweger syndrome by identifying mutations in the PEX13 gene, facilitate genetic counseling, and inform family planning decisions.

How to Prepare

  • Ensure proper sample handling and labeling
  • Use sterile containers for blood collection
  • For FTA cards, follow specific instructions for blood application

Doctor's Notes

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

"This test is crucial for early diagnosis of Zellweger syndrome, enabling timely intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Collection MethodVenipuncture

Sample Stability

Whole blood: 24 hours at 2-8°C
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or collected samples

Understanding Your Results

Interpretation of NGS results for PEX13 gene mutations to diagnose Zellweger syndrome.
Positive result: Pathogenic mutation detected, confirming Zellweger syndrome diagnosis
Negative result: No pathogenic variants found; does not rule out other genetic causes
Variant of uncertain significance: Requires further evaluation and genetic counseling
Results should be correlated with clinical symptoms and family history
⚠️ When to Consult a Doctor:

If symptoms of Zellweger syndrome are present, such as severe muscle weakness, seizures, or developmental delays, or for family planning with a history of the disorder.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or epigenetic changes
  • ⚠Requires interpretation by a genetic counselor for clinical significance

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Potential psychological impact from genetic results
  • ●Risk of false negative or false positive, though rare

Interfering Factors

  • ●Degraded or low-quality DNA sample
  • ●Sample contamination during collection or processing

Frequently Asked Questions

What is the PEX13 Gene Zellweger Syndrome NGS Genetic Test?
This test uses next-generation sequencing to analyze the PEX13 gene for mutations associated with Zellweger syndrome, a rare genetic disorder affecting peroxisome formation.
Why is this test recommended?
It is recommended to confirm diagnosis of Zellweger syndrome in individuals with symptoms or family history, enabling early intervention and genetic counseling.
What are the symptoms of Zellweger syndrome?
Common symptoms include severe muscle weakness, poor muscle tone, feeding difficulties, seizures, developmental delays, vision and hearing problems, and liver dysfunction.
How is the test performed?
A blood sample is collected, DNA is extracted, and analyzed using NGS technology to detect mutations in the PEX13 gene.
What is the cost of the test in India?
The cost is approximately INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get the results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the PEX13 gene, confirming a diagnosis of Zellweger syndrome.
What does a negative result mean?
A negative result means no pathogenic variants were detected, but it may not rule out other genetic causes or mutations in other genes.
Is genetic counseling necessary before the test?
Yes, genetic counseling is recommended to understand the implications, risks, and benefits of the test, and to assist with result interpretation.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal genetic testing in at-risk families, but consultation with a healthcare provider is essential.
Are there any risks associated with the test?
Risks are minimal, such as slight discomfort from blood draw, but there may be psychological impacts from the results. Discuss with a genetic counselor.
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.

LIMS Integration

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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