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PEX16 Gene Zellweger syndrome NGS Genetic Test

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PEX16 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX16 Gene Zellweger Syndrome Test

Also known as: PEX16 gene mutation test, Zellweger syndrome genetic screening, Peroxisomal disorder genetic test

PEX16 Gene Zellweger syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

To detect mutations in the PEX16 gene for diagnosing Zellweger syndrome, enabling early intervention, genetic counseling, and informed clinical decision-making.

Test Code
1854
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 Technology
Step 1

Sample Collection

Provide clinical history of the patient and family history of peroxisomal disorders. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using an FTA card for one drop of blood, following standard phlebotomy procedures.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before testing to ensure informed consent and appropriate test selection.
2
During the Test:The test involves DNA extraction from blood samples followed by NGS sequencing and bioinformatics analysis.
3
After the Test:Post-test genetic counseling is recommended to discuss results, implications, and next steps.

About This Test

Who Should Get This Test

To detect mutations in the PEX16 gene for diagnosing Zellweger syndrome, enabling early intervention, genetic counseling, and informed clinical decision-making.

How to Prepare

  • No fasting required
  • Bring relevant medical records and identification
  • Ensure proper labeling of samples
  • Follow instructions for FTA card usage if applicable

Doctor's Notes

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

"Early genetic diagnosis of Zellweger syndrome through PEX16 gene testing is critical for guiding clinical management, genetic counseling, and family planning, especially in cases with neurological symptoms."

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 collection

Sample Stability

Blood: Store at 2-8°C for up to 48 hours
DNA: Stable at room temperature for 7 days
FTA cards: Store in a dry environment
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed, clotted, or contaminated samples
  • Incorrect container or improper storage
  • Missing patient information

Understanding Your Results

Results indicate the presence or absence of mutations in the PEX16 gene. Positive results confirm a diagnosis of Zellweger syndrome due to PEX16 gene defect, while negative results do not exclude other genetic causes if clinical symptoms persist.
📊

Positive for pathogenic mutation

Confirms diagnosis of Zellweger syndrome associated with PEX16 gene. Refer to a genetic specialist for management, treatment options, and family counseling.

📊

Negative for mutations

No pathogenic variants detected in PEX16 gene. Consider other peroxisomal disorders or genetic conditions if symptoms are present.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is unclear. Further testing, family studies, and clinical correlation are recommended.

⚠️ When to Consult a Doctor:

If a child exhibits symptoms such as developmental delays, seizures, feeding difficulties, liver problems, or if there is a family history of peroxisomal disorders, consult a pediatric neurologist or geneticist for evaluation.

Limitations

  • ⚠May not detect all possible genetic variants or deep intronic mutations
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results should be correlated with clinical findings and other diagnostic tests

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, or discomfort
  • ●Psychological impact of genetic test results
  • ●Potential for variants of uncertain significance

Interfering Factors

  • ●Contaminated DNA samples
  • ●Improper sample storage conditions
  • ●Hemolyzed or degraded blood specimens

Compare With Similar Tests

TestPEX16 Gene Zellweger syndrome NGS Genetic TestPEX1 Gene Zellweger Syndrome TestPeroxisomal Disorders Panel
ComparisonPEX16 Gene Zellweger syndrome NGS Genetic Test

Frequently Asked Questions

What is Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder caused by mutations in genes essential for peroxisome function, leading to developmental delays, neurological issues, and organ dysfunction.
What causes Zellweger syndrome?
It is caused by mutations in any of 13 genes, including PEX16, which disrupt peroxisome formation and metabolic processes.
What is the PEX16 gene?
PEX16 is a gene that codes for a protein necessary for the formation of new peroxisomes; mutations can lead to Zellweger syndrome.
How is Zellweger syndrome diagnosed?
Diagnosis involves physical exam, blood tests, imaging, and genetic testing to identify mutations in peroxisome-related genes like PEX16.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is a technology that analyzes DNA to detect genetic mutations with high accuracy, used here for PEX16 gene analysis.
How much does the PEX16 Gene Zellweger Syndrome Test cost in India?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is available in multiple cities across India for online bookings.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used as sample types.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting genetic mutations, but results should be interpreted with clinical correlation.
Can the test be done at any age?
Yes, genetic testing can be performed at any age, though Zellweger syndrome is often diagnosed in infancy or early childhood.
What should I do if the test result is positive?
A positive result confirms Zellweger syndrome; consult a genetic specialist for management, treatment options, and family counseling.
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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