PEX7 Gene Refsum disease NGS Genetic Test
Short Name: PEX7 Refsum Disease Test
Also known as: Refsum Disease Genetic Test, PEX7 Mutation Analysis, Hereditary Motor and Sensory Neuropathy Type IV Test
PEX7 Gene Refsum disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Gene Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 the PEX7 Gene Refsum Disease NGS Genetic Test is to accurately diagnose Refsum disease by identifying mutations in the PEX7 gene. This enables early intervention, genetic counseling for affected families, and informed management strategies to mitigate symptoms and complications.
- Test Code
- 2231
- ICD Code
- E71.40
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Gene Sequencing
Sample Collection
Obtain informed consent, review patient clinical history, and conduct genetic counseling to draw a family pedigree chart.
Method: Venipuncture
Laboratory Analysis
Collect blood sample via venipuncture using sterile techniques; for FTA card, apply one drop of blood and air-dry.
Report Delivery
Label sample correctly, transport at ambient room temperature, and ensure timely delivery to the lab.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PEX7 Gene Refsum Disease NGS Genetic Test is to accurately diagnose Refsum disease by identifying mutations in the PEX7 gene. This enables early intervention, genetic counseling for affected families, and informed management strategies to mitigate symptoms and complications.
How to Prepare
- Fast for not required
- Avoid hemolysis during blood draw
- Use appropriate anticoagulant
- Store sample at room temperature
- Document collection time and conditions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Refsum disease is essential for early diagnosis, especially in families with a history of metabolic disorders. It aids in personalized management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
- Delayed delivery beyond stability period
Understanding Your Results
Consult a doctor if you experience symptoms such as vision loss, numbness, or coordination issues, or if you have a family history of Refsum disease. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all genetic variants, including large deletions or intronic mutations
- ⚠Does not substitute for clinical evaluation
- ⚠Results require correlation with clinical findings
- ⚠Limited to PEX7 gene; other genes causing similar phenotypes are not analyzed
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●No significant risks associated with the test itself
Interfering Factors
- ●Contaminated DNA sample
- ●Degraded sample integrity
- ●Recent blood transfusion
- ●PCR inhibitors in blood
Frequently Asked Questions
What is Refsum disease?
Why is the PEX7 gene test important?
How is the test performed?
What is the cost of the test?
Is home collection available?
How long does it take to get results?
Who should take this test?
Is fasting required for the test?
What does a positive result mean?
Are there any risks associated with the test?
Can this test be used for prenatal diagnosis?
How accurate is the test?
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Reference Laboratory Services
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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