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PEX10 Gene Zellweger syndrome NGS Genetic Test

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PEX10 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX10 Zellweger NGS Test

Also known as: Zellweger Syndrome Genetic Test, PEX10 Gene Test, Peroxisomal Biogenesis Disorder NGS Test

PEX10 Gene Zellweger syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants, Prenatal, All 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

The purpose of the PEX10 Gene Zellweger Syndrome NGS Genetic Test is to accurately diagnose Zellweger syndrome by identifying mutations in the PEX10 gene. This helps in confirming suspected cases based on clinical symptoms, guiding treatment decisions, facilitating genetic counseling for families, and enabling carrier testing or prenatal diagnosis in high-risk pregnancies.

Test Code
1857
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS) Technology
Step 1

Sample Collection

Provide complete clinical history and undergo genetic counseling to draw a pedigree chart of family members. No specific preparation is required, but ensure sample collection is done by a trained professional.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture, or a drop of blood will be spotted on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

The sample is labeled and sent to the laboratory for NGS analysis. Maintain the sample at ambient room temperature during transport.

Timeline: Reports are typically delivered within 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Schedule genetic counseling to discuss the test, implications, and family history. Ensure informed consent is obtained.
2
During the Test:A blood sample or FTA card spot is collected; the test involves NGS technology in the lab, which is non-invasive for the patient.
3
After the Test:Results are available in 3-4 weeks. Follow up with your healthcare provider for result interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the PEX10 Gene Zellweger Syndrome NGS Genetic Test is to accurately diagnose Zellweger syndrome by identifying mutations in the PEX10 gene. This helps in confirming suspected cases based on clinical symptoms, guiding treatment decisions, facilitating genetic counseling for families, and enabling carrier testing or prenatal diagnosis in high-risk pregnancies.

How to Prepare

  • Use sterile equipment for blood collection.
  • For FTA card, ensure a single drop of blood is applied and dried completely.
  • Label the sample with patient details and test information.
  • Transport the sample to the lab within 48 hours at room temperature.

Doctor's Notes

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

"This test is essential for early and accurate diagnosis of Zellweger syndrome, enabling timely management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA Vacutainer tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Room temperature
FTA card
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed, lipemic, or clotted blood samples.
  • Insufficient sample volume or degraded DNA.
  • Unlabeled or improperly stored samples.
  • Samples collected without proper consent or documentation.

Understanding Your Results

Interpretation of the PEX10 Gene Zellweger Syndrome NGS Genetic Test results should be done by a qualified geneticist or healthcare provider. A positive result indicates the presence of pathogenic mutations in the PEX10 gene, confirming a diagnosis of Zellweger syndrome. Negative results may not entirely exclude the condition if other genes are involved.
📊

Positive (Pathogenic variant detected)

Confirms diagnosis of Zellweger syndrome; genetic counseling and supportive management recommended.

📊

Negative (No pathogenic variant detected)

Zellweger syndrome unlikely due to PEX10 mutations; consider other genetic or biochemical tests if symptoms persist.

📊

Variant of Uncertain Significance (VUS)

Further testing and clinical correlation advised; may require family studies for classification.

📊

Carrier status

Individual carries one mutation; risk of having affected children if partner is also a carrier.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if the test result is positive, if symptoms suggestive of Zellweger syndrome are present, or if there is a family history of peroxisomal disorders. Early consultation is vital for management and family planning.

Limitations

  • ⚠May not detect all possible mutations, including deep intronic or regulatory variants.
  • ⚠Does not rule out other peroxisomal disorders or genetic conditions.
  • ⚠Requires genetic counseling for accurate interpretation of results.
  • ⚠Results may have limitations in cases of mosaicism or complex rearrangements.

Risks & Considerations

  • ●Minimal physical risk from blood draw, such as bruising or infection.
  • ●Potential psychological impact from test results, especially if positive.
  • ●Risk of misinterpretation without genetic counseling.

Interfering Factors

  • ●DNA degradation due to improper sample storage.
  • ●Contamination of sample during collection or processing.
  • ●Presence of hemolysis or lipemia in blood samples.
  • ●Low DNA concentration affecting sequencing quality.

Compare With Similar Tests

TestPEX10 Gene Zellweger syndrome NGS Genetic TestBiochemical Test for Very Long-Chain Fatty AcidsOther PEX Gene Panels (e.g., PEX1, PEX6)Prenatal CVS or AmniocentesisSingle-Gene Sanger Sequencing
ComparisonPEX10 Gene Zellweger syndrome NGS Genetic TestUsed for initial screening but less specific; NGS provides genetic confirmation.NGS can analyze multiple genes simultaneously, offering comprehensive diagnosis.Invasive procedures; NGS can be performed on prenatal samples with high accuracy.Lower throughput and higher cost per gene; NGS is more efficient for multiple genes.

Frequently Asked Questions

What is the PEX10 Gene Zellweger Syndrome NGS Genetic Test?
It is a genetic test using next-generation sequencing to analyze the PEX10 gene for mutations causing Zellweger syndrome, a rare peroxisomal disorder.
What are the symptoms of Zellweger syndrome?
Symptoms include poor muscle tone, seizures, hearing and vision loss, liver dysfunction, and developmental delay, typically appearing in infancy.
How is the test performed?
The test involves collecting a blood sample or a drop on an FTA card, which is then analyzed using NGS technology to sequence the PEX10 gene.
What is the cost of the test in India?
The cost is approximately INR 20,000, which includes home sample collection and genetic counseling.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort, but it is quick and minimally invasive.
Can the test be done during pregnancy?
Yes, prenatal diagnosis is possible using chorionic villus sampling or amniocentesis samples, but requires genetic counseling.
What if the test result is positive?
A positive result confirms Zellweger syndrome; consult a geneticist for management options and family planning advice.
Is genetic counseling required before the test?
Yes, genetic counseling is recommended to understand the test implications, draw a pedigree chart, and interpret results accurately.
How accurate is the NGS test?
NGS has high accuracy for detecting pathogenic variants in the PEX10 gene, but may not identify all mutation types.
Can the test detect carriers?
Yes, the test can identify individuals who carry one mutation, indicating carrier status for Zellweger syndrome.
What are the alternatives to this test?
Alternatives include biochemical tests for very long-chain fatty acids, single-gene sequencing, or broader genetic panels for peroxisomal disorders.
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

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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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