PhyH Gene Refsum Disease NGS Genetic DNA Test
Introduction to the Test
The PhyH Gene Refsum Disease NGS Genetic DNA Test is an advanced diagnostic tool designed to detect mutations in the PHYH gene, which is responsible for Refsum disease, a rare metabolic disorder. This test employs Next Generation Sequencing (NGS) technology to provide comprehensive insights into a patient’s genetic makeup, allowing for early diagnosis and management of the disease.
What the Test Measures
This test specifically measures the presence of pathogenic variants in the PHYH gene. By analyzing the genetic code, healthcare providers can determine if a patient is at risk of developing Refsum disease, which can lead to serious health complications if left untreated.
Who Should Consider This Test
Individuals with a family history of Refsum disease or those exhibiting symptoms such as vision problems, hearing loss, or neurological issues should consider undergoing this test. Risk factors include:
- Family history of metabolic disorders
- Symptoms associated with Refsum disease
Benefits of Taking the Test
The benefits of the PhyH Gene Refsum Disease NGS Genetic DNA Test include:
- Early detection of genetic predispositions
- Informed decision-making regarding treatment options
- Better management of metabolic disorders
- Access to genetic counseling for affected family members
Understanding Your Results
After the test, results will be provided in a detailed report. It is essential to discuss these results with a healthcare professional who can guide you on the next steps, treatment options, and any necessary lifestyle changes.
Test Pricing
| Test Name | Price (NGN) |
|---|---|
| PhyH Gene Refsum Disease NGS Genetic DNA Test | Regular Price: 560000 NGN |
| Discount Price: 400000 NGN |
Book the Test
To book the PhyH Gene Refsum Disease NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team at DNA Labs Nigeria is ready to assist you with scheduling your appointment and providing you with the necessary pre-test instructions, including a genetic counseling session and clinical history documentation.
Turnaround Time and Sample Type
The expected turnaround time for results is approximately 3 to 4 weeks. We accept samples in various forms, including:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Your health is our priority at DNA Labs Nigeria. Let us help you take the first step towards understanding your genetic health.
