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PEX12 Gene Zellweger syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PEX12 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX12 Gene Zellweger Syndrome Test

Also known as: PEX12 Gene Sequencing, Zellweger Syndrome NGS Test

PEX12 Gene Zellweger syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing on Blood or Extracted DNA samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation SequencingAll Ages🏠 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 and other peroxisomal disorders by identifying mutations in the PEX12 gene using next-generation sequencing.

Test Code
1851
Price
₹20,000
Sample Type
Blood or Extracted DNA
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS, Next-Generation Sequencing
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling.

Method: Blood draw

Step 2

Laboratory Analysis

Blood draw or DNA extraction from provided sample.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to understand test implications.
2
During the Test:Sample collection via blood draw.
3
After the Test:Wait for report, which takes 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose Zellweger Syndrome and other peroxisomal disorders by identifying mutations in the PEX12 gene using next-generation sequencing.

How to Prepare

  • Use sterile blood collection tubes
  • Label sample correctly
  • Store at ambient temperature

Doctor's Notes

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

"Early genetic testing for Zellweger syndrome is crucial for management and family planning. Genetic counseling helps families understand test implications and make informed decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA
Sample VolumeVaries
ContainerEDTA tube or FTA card
Collection MethodBlood draw

Sample Stability

Blood: 7 days at room temperature
DNA: Stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

The test results indicate the presence or absence of mutations in the PEX12 gene.
📊

Negative

No pathogenic variants detected; low risk of Zellweger Syndrome

📊

Positive

Pathogenic variants detected; confirms diagnosis of Zellweger Syndrome

⚠️ When to Consult a Doctor:

If symptoms like hypotonia, seizures, or developmental delay are present, consult a geneticist or neurologist.

Limitations

  • ⚠Test only covers PEX12 gene; other genes not analyzed
  • ⚠May not detect all types of mutations

Risks & Considerations

  • ●Bruising at puncture site
  • ●Infection risk (rare)

Interfering Factors

  • ●Contaminated sample
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is Zellweger Syndrome?
Zellweger Syndrome is a rare genetic disorder that affects the development of many organs and systems, caused by mutations in genes involved in peroxisome formation, such as PEX12.
What is the PEX12 gene?
The PEX12 gene produces a protein crucial for peroxisome biogenesis. Mutations in this gene can lead to Zellweger Syndrome and other peroxisomal disorders.
How is the NGS Genetic Test performed?
The test uses next-generation sequencing to analyze blood or DNA samples for mutations in the PEX12 gene, providing accurate genetic diagnosis.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, which includes sample collection, shipping, analysis, and a detailed report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
How long does it take to get results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What samples are required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Who should get tested for Zellweger Syndrome?
Individuals with symptoms like hypotonia, seizures, developmental delay, or a family history of peroxisomal disorders should consider testing.
What are the symptoms of Zellweger Syndrome?
Common symptoms include hypotonia, hearing and vision loss, liver dysfunction, seizures, developmental delay, and distinct facial features.
Can the test detect carriers?
Yes, genetic testing can identify carriers of PEX12 gene mutations, helping in family planning and risk assessment.
Is genetic counseling provided?
Yes, genetic counseling is recommended before testing to draw a pedigree chart and understand test implications.
What is included in the test cost?
The cost includes sample collection kit, shipping, laboratory analysis, and a comprehensive clinical report with interpretation and recommendations.
How accurate is the PEX12 Gene Zellweger Syndrome NGS Test?
The test utilizes next-generation sequencing, which is highly accurate for identifying mutations in the PEX12 gene. However, it may not detect all types of genetic variants, and results should be validated and interpreted by a qualified geneticist.
What steps should be taken after a positive test result?
After a positive result, it is essential to consult a geneticist or healthcare professional for further evaluation, management options, and genetic counseling. They can guide on treatment strategies and inform family members about potential risks.
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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