PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic Test
Short Name: PEX1 NGS Genetic Test
Also known as: PEX1 Gene Sequencing, Peroxisome Biogenesis Disorder Type 1B NGS Test, PEX1-Related Peroxisomal Disorder Genetic Test
PEX1 Gene Peroxisome biogenesis disorder type 1B 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 generally issued within 3 to 4 weeks after the sample reaches the laboratory. Additional confirmation or repeat sequencing may occasionally extend the reporting time.. 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 purpose of this NGS genetic test is to detect disease-causing sequence variants in the PEX1 gene, confirm clinical suspicion of peroxisome biogenesis disorder type 1B, identify at-risk family members when appropriate, and provide information that supports medical management, reproductive planning, and family counselling.
- Test Code
- 4459
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally issued within 3 to 4 weeks after the sample reaches the laboratory. Additional confirmation or repeat sequencing may occasionally extend the reporting time.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A clinical history and genetic counselling session are recommended before testing. If available, a pedigree chart showing family members affected with PEX1 gene peroxisome biogenesis disorder type 1B should be shared with the laboratory.
Method: Venipuncture or dried blood spot collection
Laboratory Analysis
Blood sample is collected by venipuncture or as one drop of blood on an FTA card. If you are providing extracted DNA, no blood draw is needed.
Report Delivery
No restrictive aftercare is required. You may resume normal daily activities. The sample will be transported to the laboratory for processing, and the report will be issued in 3 to 4 weeks.
Timeline: Reports are generally issued within 3 to 4 weeks after the sample reaches the laboratory. Additional confirmation or repeat sequencing may occasionally extend the reporting time.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the PEX1 gene, confirm clinical suspicion of peroxisome biogenesis disorder type 1B, identify at-risk family members when appropriate, and provide information that supports medical management, reproductive planning, and family counselling.
How to Prepare
- For venous blood, use an EDTA vacutainer and mix gently to avoid clotting.
- For FTA card, apply one drop of blood onto each designated circle and air dry completely.
- For extracted DNA, ensure the sample is clearly labelled and transported under cold conditions.
- Inform the laboratory of any previous genetic testing or bone marrow transplant history, as this may affect interpretation.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Molecular confirmation of a PEX1 gene variant is important not only for the affected individual but also for parents, as recurrence risk in future pregnancies should be discussed during structured genetic counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient sample quantity
- Incorrectly labelled specimen
- Sample received in a leaking or contaminated container
- FTA card that is wet, moulded, or partially spotted
Understanding Your Results
Positive for a PEX1 gene variant associated with peroxisome biogenesis disorder type 1B.
Recommended action: Clinical genetic counselling, recurrence risk assessment, family member testing, and metabolic follow-up.
Result type: Pathogenic or likely pathogenic variant detected
A gene alteration was found, but its effect on peroxisome function is currently unknown.
Recommended action: Perform parental segregation studies, RNA analysis if appropriate, and review with a clinical geneticist.
Result type: Variants of uncertain significance detected
Negative for the PEX1 gene variants analysed.
Recommended action: If clinical suspicion remains high, consider broader peroxisomal gene panel or biochemical testing.
Result type: No pathogenic variant detected
Consult your referring physician or clinical geneticist immediately if a pathogenic or likely pathogenic variant is detected, if a variant of uncertain significance is reported, or if symptoms persist despite a negative result.
Limitations
- ⚠This test is specific to the PEX1 gene and does not evaluate all peroxisomal disorder genes.
- ⚠Large structural rearrangements, deep intronic variants, and complex variants may not be detected by standard NGS analysis.
- ⚠A negative result does not exclude a peroxisomal disorder caused by another gene.
- ⚠Variants of uncertain significance may require additional family studies and genetic counselling.
- ⚠This test is not a substitute for biochemical peroxisomal investigations when clinically indicated.
Risks & Considerations
- ●Mild bruising, bleeding, or pain at the blood collection site
- ●No serious complications are associated with blood-based DNA testing
- ●Possible psychological or emotional impact of receiving genetic information
Interfering Factors
- ●Poor DNA quality or low sample quantity
- ●Sample degradation during transport
- ●DNA contamination from another sample
- ●Mosaicism or low-level variant allele fraction
- ●Presence of a variant of uncertain clinical significance
Compare With Similar Tests
| Test | PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic Test | ||
|---|---|---|---|
| Comparison | PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic Test |
Frequently Asked Questions
What is PEX1 gene peroxisome biogenesis disorder type 1B?
What does the PEX1 NGS genetic test do?
What sample is needed for this test?
Is fasting required for this test?
What is the cost of this test in India?
How long does it take to get the report?
Can this test confirm the diagnosis of peroxisome biogenesis disorder type 1B?
What does a negative test result mean?
Does this test detect all peroxisomal disorders?
Will I get raw data and VCF files with my report?
Is genetic counselling recommended before and after this test?
Can I get free home sample collection for this test?
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₹20,000Reference Laboratory Services
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