PEX5 Gene Peroxisome biogenesis disorder type 2B NGS Genetic Test
Short Name: PEX5 NGS Genetic Test
Also known as: PEX5 Gene Sequencing, Peroxisomal Disorder NGS Panel
PEX5 Gene Peroxisome biogenesis disorder type 2B 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 Reports are delivered within 3 to 4 weeks of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect pathogenic sequence variants in the PEX5 gene that are responsible for Peroxisome Biogenesis Disorder Type 2B.
- Test Code
- 4455
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please inform the laboratory about any medicines or supplements the patient is taking. A genetic counselling session may be scheduled prior to testing.
Method: Blood draw or FTA card spot
Laboratory Analysis
Blood sample is collected aseptically. Alternatively, a few drops of blood on FTA card or a sample of extracted DNA may be submitted.
Report Delivery
No specific precautions are needed after sample collection. You can resume normal activities. Results will be shared via the portal/email within the expected turnaround time.
Timeline: Reports are delivered within 3 to 4 weeks of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic sequence variants in the PEX5 gene that are responsible for Peroxisome Biogenesis Disorder Type 2B.
How to Prepare
- For blood collection, use an EDTA tube and ensure proper mixing.
- If using FTA card, apply 1-2 drops of blood into each indicated circle and allow to air dry completely.
- Transport samples within 24-72 hours at room temperature; avoid freezing FTA cards.
- Extracted DNA should be in sterile nuclease-free container.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Sample mislabeled or without consent
- Insufficient blood volume or DNA quantity
- FTA card with improper sample application
Understanding Your Results
Positive for a pathogenic PEX5 variant
Confirms the diagnosis of Peroxisome Biogenesis Disorder Type 2B. Genetic counselling recommended.
Positive for a variant of uncertain significance (VUS)
Further testing of family members and/or functional studies may be required to establish significance.
Negative for PEX5 pathogenic variants
PEX5 gene-related disease is unlikely; consider other peroxisomal genes or disorders.
If you or your child experience developmental delays, seizures, visual or hearing problems, unexplained liver or kidney issues, or have a family history of peroxisomal disorders, consult a geneticist or neurologist for further evaluation.
Limitations
- ⚠This test only analyzes the PEX5 gene and will not detect mutations in other peroxisomal biogenesis genes.
- ⚠Variants of uncertain clinical significance may be reported; further family segregation studies may be required.
- ⚠NGS may not reliably detect large deletions/duplications or deep intronic variants.
- ⚠Diagnostic yield depends on the clinical phenotype and correlation.
Risks & Considerations
- ●There are no significant physical risks associated with a blood draw.
- ●Slight bruising or bleeding at the puncture site may occur.
Interfering Factors
- ●Maternal cell contamination in the sample
- ●Poor DNA quality or quantity
- ●Presence of pseudogene sequences that may affect variant calling
- ●Hematopoietic mosaic variants below detection threshold
Frequently Asked Questions
What is Peroxisome Biogenesis Disorder Type 2B?
What are the common symptoms of PEX5 gene-related disorder?
How is the PEX5 genetic test performed?
What is the cost of the PEX5 gene NGS genetic test in India?
What sample types are accepted for this test?
Do I need to fast before the test?
What is the turnaround time for results?
Can home sample collection be done?
Is genetic counselling included?
Does the report include raw data files?
What does a negative test result mean?
Who should order this test?
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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.
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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