PHYH Gene Refsum disease NGS Genetic Test
Short Name: PHYH Gene Refsum Disease Test
Also known as: PHYH Gene Test, Refsum Disease Genetic Test, Phytanoyl-CoA Hydroxylase Gene Test
PHYH Gene Refsum disease 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 3-4 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
To diagnose Refsum disease by detecting pathogenic mutations in the PHYH gene through NGS, enabling early dietary management and genetic counseling.
- Test Code
- 2232
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Ensure genetic counselling is completed and informed consent obtained.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture from a vein in the arm.
Report Delivery
Sample labeled and sent to the laboratory for DNA extraction and analysis.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Refsum disease by detecting pathogenic mutations in the PHYH gene through NGS, enabling early dietary management and genetic counseling.
How to Prepare
- Fasting not required
- Bring referral from physician and identification
- Avoid hemolysis during blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation of Refsum disease allows for targeted dietary management, which can prevent symptom progression and improve quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Positive for pathogenic variant
Confirm diagnosis of Refsum disease; initiate dietary management and genetic counseling.
Negative for pathogenic variant
Refsum disease is unlikely; consider other metabolic or neurological causes for symptoms.
Consult a geneticist or neurologist if symptoms persist, worsen, or if family history suggests Refsum disease.
Limitations
- ⚠Only detects mutations in the PHYH gene
- ⚠May not identify all genetic causes of Refsum-like symptoms
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising, infection, or discomfort
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
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Frequently Asked Questions
What is Refsum disease?
What causes Refsum disease?
How is Refsum disease diagnosed?
What is the PHYH Gene NGS Genetic Test?
How accurate is the NGS test for Refsum disease?
What is the cost of the PHYH Gene Refsum Disease NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get results?
What should I do if I test positive for Refsum disease?
Can Refsum disease be treated?
Is genetic testing necessary for family members?
What are the risks of the test?
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