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PEX14 Gene Zellweger syndrome NGS Genetic Test

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PEX14 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX14 Gene Zellweger NGS Test

Also known as: PEX14 Gene Sequencing, Zellweger Syndrome Genetic Test, Peroxisome Biogenesis Disorder Test

PEX14 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. 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

The purpose of this test is to identify mutations in the PEX14 gene that cause Zellweger syndrome, enabling early diagnosis, carrier testing, and genetic counseling for affected families.

Test Code
1850
ICD Code
Q87.89
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Provide clinical history and genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card.

Step 3

Report Delivery

Sample sent for NGS analysis. Reports available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended. Provide detailed family history.
2
During the Test:Blood sample collection procedure.
3
After the Test:Wait for report. Discuss results with healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the PEX14 gene that cause Zellweger syndrome, enabling early diagnosis, carrier testing, and genetic counseling for affected families.

How to Prepare

  • Avoid eating or drinking if specified, but fasting not required
  • Ensure proper labeling of samples
  • Use sterile equipment for blood draw

Doctor's Notes

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

"Genetic testing for Zellweger syndrome is crucial for families with a history of peroxisomal disorders. Early detection can guide management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples stable for 24 hours at room temperature
FTA cards stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Incorrectly labeled samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PEX14 gene associated with Zellweger syndrome.
📊

Positive for pathogenic variant

Confirmed diagnosis of Zellweger syndrome. Recommend genetic counseling and clinical management.

Action: Consult geneticist and neurologist

📊

Negative for pathogenic variant

No mutations detected. However, clinical correlation is necessary.

Action: Follow up with physician

📊

Variant of uncertain significance

Further testing or family studies may be needed.

Action: Genetic counseling recommended

⚠️ When to Consult a Doctor:

If symptoms of Zellweger syndrome are present or if there is a family history, consult a geneticist or neurologist.

Limitations

  • ⚠Test may not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Not for diagnostic confirmation without clinical evaluation

Risks & Considerations

  • ●Minimal risks associated with blood draw
  • ●Genetic testing may have psychological implications

Interfering Factors

  • ●Degraded DNA sample
  • ●Contamination during sample processing
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is the PEX14 Gene Zellweger Syndrome NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the PEX14 gene, which are associated with Zellweger syndrome, a rare genetic disorder affecting peroxisome formation.
Who should get this test?
Individuals with a family history of Zellweger syndrome, symptoms like abnormal facial features, seizures, or developmental delays, or those seeking carrier testing.
What are the symptoms of Zellweger syndrome?
Symptoms include abnormal facial features, seizures, muscle weakness, hearing and vision loss, liver dysfunction, and developmental delays.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to identify mutations in the PEX14 gene.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, processing, and analysis.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Reports are typically available in 3 to 4 weeks.
What do the results mean?
Results indicate the presence or absence of pathogenic variants. A positive result confirms Zellweger syndrome, while negative or uncertain results may require further evaluation.
Can the test detect carriers?
Yes, the test can identify carriers of PEX14 gene mutations, aiding in genetic counseling.
What is the role of the PEX14 gene?
The PEX14 gene is essential for the formation of peroxisomes, which break down fatty acids and perform vital cellular functions.
Are there any risks associated with the test?
Risks are minimal, typically limited to blood draw discomfort, but genetic testing may have psychological implications.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but results should be correlated with clinical findings.
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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