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PEX6 Gene Zellweger syndrome NGS Genetic Test

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PEX6 Gene Zellweger syndrome NGS Genetic Test

Short Name: PEX6 Zellweger NGS Test

Also known as: PEX6 Gene Sequencing, Zellweger Syndrome Genetic Test, Peroxisome Biogenesis Disorder NGS Test, PEX6 Mutation Analysis, PEX6 NGS Panel

PEX6 Gene Zellweger syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are available within 3 to 4 weeks from the date of sample collection.. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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 PEX6 Gene Zellweger Syndrome NGS Genetic Test is to identify mutations in the PEX6 gene that cause or contribute to Zellweger syndrome and other peroxisome biogenesis disorders. This test aids in confirming clinical diagnosis, differentiating Zellweger syndrome from other peroxisomal disorders, informing prognosis, guiding management strategies, and enabling genetic counselling for affected families.

Test Code
1856
CPT Code
81479
ICD Code
Q87.89
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are available within 3 to 4 weeks from the date of sample collection.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is required before sample collection to draw a pedigree chart of family members affected with Zellweger syndrome or related peroxisome biogenesis disorders. Provide complete clinical history of the patient. No fasting is required.

Method: Venipuncture or FTA Card Prick

Step 2

Laboratory Analysis

A blood sample (3-5 mL in EDTA tube) or one drop of blood on an FTA card is collected by a trained phlebotomist. For extracted DNA, provide the sample in a suitable transport buffer.

Step 3

Report Delivery

The sample is labeled and transported to the laboratory under appropriate conditions. Results are typically available within 3 to 4 weeks. Reports are shared via online portal, email, or WhatsApp.

Timeline: Results are available within 3 to 4 weeks from the date of sample collection.

Patient Instructions

1
Before the Test:A genetic counselling session to document the family pedigree and clinical history is required before sample collection. No fasting is necessary. Ensure informed consent has been obtained from the patient or guardian.
2
During the Test:A blood sample is collected via venipuncture or using an FTA card. The sample is sent to the molecular genetics laboratory for NGS sequencing and analysis of the PEX6 gene.
3
After the Test:After sample collection, normal activities can be resumed immediately. Reports are typically available in 3 to 4 weeks and will be shared via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the PEX6 Gene Zellweger Syndrome NGS Genetic Test is to identify mutations in the PEX6 gene that cause or contribute to Zellweger syndrome and other peroxisome biogenesis disorders. This test aids in confirming clinical diagnosis, differentiating Zellweger syndrome from other peroxisomal disorders, informing prognosis, guiding management strategies, and enabling genetic counselling for affected families.

How to Prepare

  • Ensure the patient or guardian provides informed consent for genetic testing
  • Collect 3-5 mL of venous blood in an EDTA (lavender top) tube, or use an FTA card with a finger-prick sample
  • Label the sample with patient details including name, date of birth, and sample ID
  • Store the sample at ambient room temperature (2-25 degrees Celsius); do not freeze blood samples
  • Transport the sample to the laboratory within 48 hours of collection
  • Ensure a genetic counselling session has been completed and pedigree chart documented prior to testing

Doctor's Notes

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

"PEX6 gene mutations are an important cause of Zellweger spectrum disorders. Early genetic testing using NGS technology can confirm diagnosis, guide family counselling, and help differentiate Zellweger syndrome from other peroxisome biogenesis disorders. I recommend this test for any infant presenting with characteristic features such as hypotonia, seizures, and hepatic dysfunction suggestive of a peroxisomal disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA (Lavender Top) Tube or FTA Card
Collection MethodVenipuncture or FTA Card Prick

Sample Stability

Sample Rejection Criteria:
  • Sample collected in incorrect container (non-EDTA tube)
  • Hemolyzed or severely lipemic sample
  • Sample received without proper labeling or patient identification
  • Insufficient sample volume for DNA extraction
  • Sample contaminated or improperly stored during transport
  • Sample collected post blood transfusion within 30 days

Understanding Your Results

The results of the PEX6 Gene Zellweger Syndrome NGS Genetic Test are interpreted in the context of the patient's clinical presentation, family history, and other laboratory findings. A pathogenic or likely pathogenic variant identified in both copies (homozygous or compound heterozygous) of the PEX6 gene is consistent with a diagnosis of a PEX6-related peroxisome biogenesis disorder. A negative result means no pathogenic variants were detected in the PEX6 gene, but does not exclude Zellweger syndrome caused by mutations in other genes.
📊

Confirms diagnosis of PEX6-related peroxisome biogenesis disorder (Zellweger spectrum disorder). Clinical correlation with VLCFA levels and imaging is recommended. Genetic counselling for the family is advised.

Result type: Pathogenic Variant Detected (Homozygous or Compound Heterozygous)

📊

Strong evidence suggests association with disease. Clinical correlation and family segregation studies are recommended for definitive diagnosis.

Result type: Likely Pathogenic Variant Detected

📊

The significance of the detected variant cannot be determined with available evidence. Clinical correlation, parental testing, and periodic re-evaluation are recommended.

Result type: Variant of Uncertain Significance (VUS)

📊

The variant is unlikely to be disease-causing. Clinical evaluation should be directed towards other potential causes of the patient's symptoms.

Result type: Likely Benign / Benign Variant

📊

No clinically significant variants were identified in the PEX6 gene. If clinical suspicion remains high, testing for other PEX genes or a comprehensive peroxisomal gene panel should be considered.

Result type: No Pathogenic Variant Detected

⚠️ When to Consult a Doctor:

Consult your doctor if the test identifies a pathogenic or likely pathogenic variant, if a Variant of Uncertain Significance (VUS) is found, or if clinical symptoms persist despite a negative result. Early consultation with a genetic specialist is recommended for appropriate management, treatment planning, and genetic counselling.

Limitations

  • ⚠This test analyzes only the PEX6 gene; mutations in other PEX genes (PEX1, PEX2, PEX5, PEX10, PEX12, PEX13, PEX16, PEX19, PEX26) associated with Zellweger syndrome are not covered
  • ⚠Novel or previously unreported variants may be classified as Variants of Uncertain Significance (VUS)
  • ⚠Large deletions, duplications, or deep intronic variants may not be reliably detected by standard NGS sequencing
  • ⚠This test does not detect epigenetic changes or mitochondrial DNA variants
  • ⚠A negative result does not completely exclude Zellweger syndrome if caused by mutations in other genes

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Psychological impact of genetic test results on the patient and family members
  • ●Risk of identifying Variants of Uncertain Significance that may cause anxiety or uncertainty
  • ●Potential implications for family members who may be carriers of the same mutation

Interfering Factors

  • ●Degraded or insufficient DNA quality from the sample may affect sequencing accuracy
  • ●Recent blood transfusion within the past 30 days may interfere with results
  • ●Contamination during sample collection or transport
  • ●Technical limitations of NGS may miss large structural variants or certain repeat regions

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Frequently Asked Questions

What is the PEX6 Gene Zellweger Syndrome NGS Genetic Test?
This is a Next Generation Sequencing (NGS) based genetic test that analyzes the PEX6 gene to identify mutations associated with Zellweger syndrome and other peroxisome biogenesis disorders. It helps confirm diagnosis and guide treatment and genetic counselling.
What is Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder that affects the metabolism and development of the brain, liver, and kidneys. It is caused by mutations in genes such as PEX6 that are involved in peroxisome formation, leading to the accumulation of toxic substances in the body. It belongs to a group called peroxisome biogenesis disorders.
What symptoms indicate the need for this test?
Symptoms that may indicate the need for this test include poor muscle tone (hypotonia), seizures, developmental delay, abnormal facial features, jaundice, and hearing and vision problems in a newborn or infant. Elevated very long-chain fatty acids in blood may also prompt testing.
What sample is required for the PEX6 Gene NGS Test?
The test requires a blood sample (3-5 mL in an EDTA tube), extracted DNA, or one drop of blood on an FTA card. No fasting is required. Free home sample collection is available across India.
How much does the PEX6 Gene Zellweger Syndrome NGS Test cost?
The test costs INR 20,000 at DNA Labs India. This includes NGS sequencing, variant analysis, genetic counselling, home sample collection, and the clinical report along with raw data files (FASTQ and VCF).
How long does it take to get the results?
Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are shared via online portal, email, or WhatsApp.
Is fasting required before this test?
No, fasting is not required for the PEX6 Gene Zellweger Syndrome NGS Genetic Test.
Can this test be used for carrier testing?
Yes, this test can identify carriers of PEX6 gene mutations. It is recommended for parents of an affected child or individuals with a family history of peroxisome biogenesis disorders who wish to know their carrier status.
Does a negative result rule out Zellweger syndrome?
A negative PEX6 result does not completely rule out Zellweger syndrome, as the condition can also be caused by mutations in other PEX genes such as PEX1, PEX2, PEX5, PEX10, PEX12, and others. Your doctor may recommend additional genetic testing or a comprehensive peroxisomal gene panel.
What files are shared with the test report?
DNA Labs India is the only lab that shares raw data, FASTQ files, and VCF files along with the conclusive clinical test report, ensuring complete transparency in the testing process.
Is genetic counselling available with this test?
Yes, a genetic counselling session is included with the test. The session helps document the family pedigree, understand autosomal recessive inheritance patterns, and interpret the results in the context of clinical findings.
Is this test available across India?
Yes, the PEX6 Gene Zellweger Syndrome NGS Genetic Test is available across India with free home sample collection. The service covers major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many more locations nationwide.
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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