PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic Test
Short Name: PEX5 PBD Type 2A NGS Test
Also known as: PBD Type 2A, Peroxisome biogenesis disorder 2A, PEX5-related Zellweger syndrome spectrum disorder
PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation on Blood, Extracted DNA, or FTA Card Blood Spot samples. Results in Reports are generally available in 3 to 4 weeks from the date of sample receipt. In complex cases or when family segregation studies are required, the turnaround time may be longer.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect disease-causing variants in the PEX5 gene using next-generation sequencing. It helps confirm the clinical diagnosis of PEX5-related peroxisome biogenesis disorder type 2A, clarify inheritance, and guide family studies and reproductive planning. The test is intended to be used as part of a comprehensive clinical and biochemical evaluation by a physician or clinical geneticist.
- Test Code
- 4467
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or FTA Card Blood Spot
- Result Time
- Reports are generally available in 3 to 4 weeks from the date of sample receipt. In complex cases or when family segregation studies are required, the turnaround time may be longer.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation
Sample Collection
No fasting or special dietary preparation is required. A genetic counseling session is recommended before testing to obtain a detailed clinical history and draw a three-generation pedigree chart. Patients should bring any previous biochemical, imaging, or genetic reports.
Method: Peripheral venipuncture / FTA card spot / extracted DNA submission
Laboratory Analysis
A trained phlebotomist will collect a small blood sample. If an FTA card is used, one drop of blood is placed on the card. The procedure is quick and minimally invasive.
Report Delivery
There are no restrictions after sample collection. Patients can resume normal diet and daily activities. The report will be shared through the selected delivery method in 3 to 4 weeks.
Timeline: Reports are generally available in 3 to 4 weeks from the date of sample receipt. In complex cases or when family segregation studies are required, the turnaround time may be longer.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect disease-causing variants in the PEX5 gene using next-generation sequencing. It helps confirm the clinical diagnosis of PEX5-related peroxisome biogenesis disorder type 2A, clarify inheritance, and guide family studies and reproductive planning. The test is intended to be used as part of a comprehensive clinical and biochemical evaluation by a physician or clinical geneticist.
How to Prepare
- Explain the purpose and procedure of genetic testing to the patient or guardian.
- Obtain informed consent before sample collection.
- Collect 2-3 mL blood in an EDTA vacutainer for whole blood sample.
- For FTA card, apply one drop of blood to the marked circle and allow to dry.
- Label the sample with patient name, unique ID, date and time of collection.
- Transport the sample to the laboratory at ambient temperature.
- Do not freeze whole blood samples submitted on FTA cards.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing must always be interpreted in the context of clinical and biochemical findings. For a child with developmental delay, hypotonia, seizures, and elevated very long chain fatty acids, a PEX5 NGS study is highly valuable. If a pathogenic variant is identified, I strongly recommend discussing recurrence risk and reproductive options with a genetic counselor."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Grossly hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Sample received after 7 days without proper cold storage
- Insufficient DNA quantity or quality
- Mismatch between patient details and requisition form
Understanding Your Results
No pathogenic variant detected
A negative result reduces the likelihood of a PEX5-related disorder, but does not completely exclude the condition if clinical and biochemical suspicion is high.
Pathogenic or likely pathogenic variant identified
Confirms the molecular diagnosis of PEX5 gene peroxisome biogenesis disorder type 2A. Genetic counseling is recommended for family recurrence risk assessment.
Variant of uncertain significance (VUS)
The clinical significance is not yet clear. Additional segregation analysis, functional studies, and further testing may be required.
Incidental or secondary finding
A variant unrelated to the current indication may be identified. Genetic counseling and informed consent protocols apply.
Consult a clinical geneticist, pediatric neurologist, or obstetrician-gynecologist with genetics expertise if a child or family member has developmental delay, hypotonia, seizures, feeding difficulties, liver dysfunction, renal cysts, or a family history of peroxisomal disorders. If the NGS test identifies a pathogenic PEX5 variant, it is essential to meet with a genetic counselor to discuss recurrence risk, family testing, and reproductive options.
Limitations
- ⚠This targeted NGS test is limited to the PEX5 gene and does not assess all other genes causing peroxisomal biogenesis disorders.
- ⚠The test may not detect deep intronic variants, regulatory region variants, large structural rearrangements, or mitochondrial genome variants.
- ⚠Variants of uncertain significance may require additional family studies to determine clinical relevance.
- ⚠A negative result does not exclude a peroxisomal disorder if biochemical and clinical suspicion remains high.
- ⚠Genetic counseling is strongly recommended to interpret results in the context of the entire clinical picture.
Risks & Considerations
- ●No major medical risk is associated with this genetic test.
- ●Minimal discomfort, bruising, or infection at the blood collection site is possible.
- ●Psychological impact of receiving a genetic diagnosis may occur.
- ●There is a small possibility of identifying incidental findings.
Interfering Factors
- ●Poor DNA quality or insufficient quantity
- ●Maternal cell contamination
- ●Low-level somatic mosaicism below the detection threshold
- ●Deep intronic variants not covered by standard sequencing
- ●Large deletions, duplications, or structural rearrangements not detected by standard NGS unless specifically analyzed
- ●Incorrect sample labeling or sample mix-up
Compare With Similar Tests
| Test | PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic Test | |||||
|---|---|---|---|---|---|---|
| Comparison | PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic Test |
Frequently Asked Questions
What is the PEX5 gene peroxisome biogenesis disorder type 2A NGS genetic test?
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What sample is required for this test?
Do I need to fast before the test?
What is the cost of the PEX5 gene NGS genetic test?
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What is next-generation sequencing?
What does a pathogenic variant in the PEX5 gene mean?
Can this test detect all peroxisomal disorders?
Does DNA Labs India provide raw data files with the report?
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