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PEX1 Gene Zellweger syndrome NGS Genetic Test

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PEX1 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX1 Zellweger NGS Test

Also known as: Zellweger Syndrome Genetic Test, PEX1 Mutation Analysis, Peroxisomal Biogenesis Disorder Test

PEX1 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 or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 identify mutations in the PEX1 gene for accurate diagnosis of Zellweger syndrome using advanced next-generation sequencing technology, enabling early intervention and informed decision-making.

Test Code
1859
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS, Next-Generation Sequencing
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling session as recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and bandage if necessary. Resume normal activities.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Complete a genetic counseling session, provide detailed family medical history, and ensure the sample is collected properly.
2
During the Test:The sample undergoes next-generation sequencing to analyze the PEX1 gene for mutations.
3
After the Test:Review results with a genetic counselor or physician, discuss implications, and plan follow-up care or testing.

About This Test

Who Should Get This Test

To identify mutations in the PEX1 gene for accurate diagnosis of Zellweger syndrome using advanced next-generation sequencing technology, enabling early intervention and informed decision-making.

How to Prepare

  • No fasting required
  • Bring identification and test order form
  • Inform the collector about any medications or health conditions

Doctor's Notes

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

"Genetic testing for Zellweger syndrome is crucial for early intervention and family planning. Consult a genetic counselor for guidance on results and implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Room temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted sample
  • Insufficient volume
  • Incorrect container or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PEX1 gene associated with Zellweger syndrome.
📊

Pathogenic variants detected

Confirms diagnosis of Zellweger syndrome. Genetic counseling and specialist referral recommended.

📊

No pathogenic variants detected

Zellweger syndrome unlikely based on this test, but clinical correlation and other investigations may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a genetic specialist, neurologist, or pediatrician immediately after receiving results for further management, family planning, and support services.

Limitations

  • ⚠May not detect all possible mutations in the PEX1 gene
  • ⚠Requires interpretation by a qualified geneticist
  • ⚠Results should be correlated with clinical findings and family history

Risks & Considerations

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

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Insufficient DNA yield

Compare With Similar Tests

TestPEX1 Gene Zellweger syndrome NGS Genetic TestWhole Exome SequencingSanger Sequencing for PEX1
ComparisonPEX1 Gene Zellweger syndrome NGS Genetic Test

Frequently Asked Questions

What is Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder affecting peroxisome function, leading to severe developmental and organ abnormalities.
What causes Zellweger syndrome?
It is caused by mutations in the PEX1 gene, inherited in an autosomal recessive pattern.
How is Zellweger syndrome diagnosed?
Diagnosis involves genetic testing, specifically NGS of the PEX1 gene, along with clinical evaluation.
What is the cost of the PEX1 Gene test at DNA Labs India?
The cost is INR 20000, with free home sample collection available.
Is the test covered by insurance?
Some insurance plans may cover genetic testing; check with your provider for coverage options.
What sample is required for the test?
Blood, extracted DNA, or one drop blood on FTA card.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home collection available?
Yes, free home sample collection is offered for online bookings across India.
What are the symptoms of Zellweger syndrome?
Symptoms include hypotonia, developmental delay, seizures, vision/hearing loss, liver dysfunction, kidney cysts, and abnormal facial features.
Can Zellweger syndrome be treated?
There is no cure; management focuses on supportive care and symptom relief.
What is the inheritance pattern?
Zellweger syndrome is autosomal recessive, requiring both parents to carry a mutated gene.
Why is genetic counseling important?
Genetic counseling helps understand test results, implications for family, and planning for care or future pregnancies.
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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