PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic Test
Short Name: PEX3 NGS Test
Also known as: PEX3 Mutation Analysis, Peroxisome Biogenesis Disorder Type 10A Genetic Test, PEX3 Gene Sequencing
PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation (for reported variants) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Generally, results will be available within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to detect mutations in the PEX3 gene that lead to Peroxisome Biogenesis Disorder Type 10A. This test helps establish a molecular diagnosis, enable carrier testing, guide genetic counseling, and support prenatal or preimplantation genetic testing for at-risk couples.
- Test Code
- 4453
- CPT Code
- 81479
- ICD Code
- Z13.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Generally, results will be available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation (for reported variants)
Sample Collection
No special preparation such as fasting or sedation is required. Please carry a valid photo ID as identity proof. If you are on any anticoagulant medication, inform the collection technician.
Method: Peripheral Blood Draw / FTA Card / Saliva (as per kit)
Laboratory Analysis
A standard blood draw will be performed by a trained phlebotomist. For FTA card collection, a few drops of blood will be placed on the designated card. The procedure is quick and minimal in discomfort.
Report Delivery
There are no specific after-test restrictions. You may resume normal activities immediately. The collected sample is safely transported to the laboratory for testing.
Timeline: Generally, results will be available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect mutations in the PEX3 gene that lead to Peroxisome Biogenesis Disorder Type 10A. This test helps establish a molecular diagnosis, enable carrier testing, guide genetic counseling, and support prenatal or preimplantation genetic testing for at-risk couples.
How to Prepare
- Kindly maintain a clear sample identification label: patient name, date of birth, and collection date.
- For EDTA blood collection, mix the tube gently by inverting 8-10 times to prevent clotting.
- If using FTA card, allow the blood spots to air dry completely for at least 30 minutes before sealing in the provided pouch.
- For DNA extraction, send a minimum of 3-5 µg of high-quality genomic DNA (A260/280 ratio 1.8-2.0) in a sterile DNA-free vial.
- Samples should be shipped at room temperature (20-25°C); do not freeze whole blood.
- Ensure your name and details match the requisition form exactly to avoid result delays.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"For families with suspected peroxisomal disorders, genetic testing provides an invaluable tool to establish an accurate molecular diagnosis and guide recurrence risk counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or frozen whole blood samples
- Samples without proper labeling or requisition form
- Incorrect sample collection tube (e.g., Heparin tube without DNA-preserving properties)
- Samples leaking or contaminated
- Samples received after prolonged transit without cold chain or proper packaging
Understanding Your Results
No disease-causing variants were identified in the PEX3 gene. This does not completely rule out a peroxisome biogenesis disorder, as mutations in other PEX genes or non-coding regions may be present.
If clinical suspicion is high, consider a multi-gene peroxisome panel or further biochemical testing (e.g., plasma VLCFA, plasmalogen levels).
Result type: Negative (No pathogenic variant detected)
A disease-causing variant was found in the PEX3 gene, confirming the molecular diagnosis of Peroxisome Biogenesis Disorder Type 10A.
The result can end a diagnostic odyssey, guide management, and allow for recurrence risk assessment and genetic counseling for family members.
Result type: Positive (Pathogenic or likely pathogenic variant detected)
A variant was identified, but its effect on protein function is not yet clearly defined.
Additional family studies (segregation analysis), functional assays, or updated variant classification may be needed. The test report will include the VUS along with recommendations.
Result type: Variant of Uncertain Significance (VUS)
If you or your child show symptoms suggestive of a peroxisome biogenesis disorder (such as hypotonia, seizures, developmental regression, or liver dysfunction) or if you have a family history of PBD10A, consult a clinical geneticist or neurologist for appropriate genetic testing and counseling.
Limitations
- ⚠This test detects sequence variants in the PEX3 gene only; it does not assess all peroxisome biogenesis genes.
- ⚠Large deletions, duplications, and structural rearrangements may not be detected by standard NGS unless copy-number variant (CNV) analysis is specifically requested.
- ⚠Low-level somatic or germline mosaicism may be missed.
- ⚠Variants in non-coding regulatory regions or deeper intronic variants may not be identified.
- ⚠The clinical significance of novel variants of uncertain significance (VUS) may require further functional studies or family segregation analysis.
Risks & Considerations
- ●Slight bruising or pain at the blood draw site
- ●Rare risk of infection at the venipuncture site
- ●No significant medical risk is associated with a blood test
- ●Potential psychological impact of receiving a positive genetic result
Interfering Factors
- ●Maternal cell contamination in prenatal samples
- ●Highly degraded or fragmented DNA
- ●PCR inhibitors from residual blood or collection chemicals
- ●Rare polymorphic variants in primer-binding sites affecting enrichment
- ●Sample mix-up or mislabeling
Compare With Similar Tests
| Test | PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic Test | PEX3 Sanger Sequencing (Single Gene) | Peroxisome Biogenesis Disorder Multi-gene Panel (NGS) | PEX3 Gene NGS Test (Current) |
|---|---|---|---|---|
| Comparison | PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic Test |
Frequently Asked Questions
What is the PEX3 gene?
What is Peroxisome Biogenesis Disorder Type 10A?
What does this NGS genetic test detect?
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What sample is required for this test?
Does this test require fasting?
How long will it take to get results?
What is included in the report?
Can this test be used for prenatal diagnosis?
What are raw data files (FASTQ, VCF) and why are they important?
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