PHYH Gene Refsum Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Metabolic Disorders
The PHYH Gene Refsum Disease NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals suspected of having Refsum disease, a rare inherited metabolic disorder. This sophisticated genetic analysis utilizes next-generation sequencing technology to examine the PHYH gene with unprecedented accuracy, providing definitive answers for patients and families affected by this challenging condition.
What is Refsum Disease?
Refsum disease is an autosomal recessive peroxisomal disorder characterized by the accumulation of phytanic acid in blood and tissues. This condition results from mutations in the PHYH gene, which encodes the enzyme phytanoyl-CoA hydroxylase essential for breaking down phytanic acid. Without proper enzyme function, phytanic acid builds up, leading to progressive neurological damage and multi-system complications.
What the Test Measures and Detects
Our advanced NGS genetic test specifically targets the PHYH gene to identify pathogenic variants responsible for Refsum disease. The test examines:
- Complete coding regions of the PHYH gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with Refsum disease
- Novel mutations that may impact enzyme function
- Copy number variations affecting gene dosage
The test utilizes state-of-the-art next-generation sequencing technology, providing comprehensive coverage with >99% sensitivity for detecting clinically significant variants. This ensures accurate diagnosis and enables appropriate medical management.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Progressive vision loss consistent with retinitis pigmentosa
- Peripheral neuropathy with sensory and motor deficits
- Cerebellar ataxia affecting coordination and balance
- Sensorineural hearing loss developing in childhood or adolescence
- Anosmia (loss of smell) and other sensory abnormalities
- Ichthyosis (scaly skin) and skeletal abnormalities
- Cardiac arrhythmias and conduction defects
- Family history of similar neurological symptoms
At-Risk Populations
Genetic testing is particularly important for:
- Individuals with unexplained neurological symptoms
- Patients with atypical retinitis pigmentosa presentations
- Family members of diagnosed Refsum disease patients
- Couples with family history considering pregnancy
- Children with developmental delays and vision problems
Benefits of Taking the PHYH Gene Test
Diagnostic Clarity and Precision
This test provides definitive molecular diagnosis, eliminating diagnostic uncertainty and enabling targeted treatment approaches. Early identification allows for timely intervention to prevent disease progression.
Personalized Treatment Planning
Confirmed diagnosis enables implementation of specific dietary modifications, including phytanic acid-restricted diets, which can significantly slow disease progression and improve quality of life.
Family Planning and Genetic Counseling
Identification of pathogenic variants facilitates accurate genetic counseling for family members and informs reproductive decision-making, including prenatal testing options.
Proactive Health Management
Early diagnosis allows for regular monitoring of neurological, ophthalmological, and cardiac function, enabling proactive management of potential complications.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the PHYH gene consistent with Refsum disease. This confirmation enables:
- Implementation of phytanic acid-restricted dietary therapy
- Regular monitoring of neurological and visual function
- Cardiac evaluation and management
- Genetic counseling for family members
- Consideration of plasmapheresis in acute presentations
Negative Result Interpretation
A negative result suggests that Refsum disease is unlikely, though does not completely exclude the condition if clinical suspicion remains high. Further evaluation for alternative diagnoses may be warranted.
Variant of Uncertain Significance (VUS)
In cases where variants of uncertain significance are identified, additional family studies and functional testing may be recommended to clarify clinical significance.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PHYH Gene Refsum Disease NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements
Before scheduling your PHYH Gene Refsum Disease NGS Genetic DNA Test, we recommend:
- Complete Clinical History: Provide detailed medical records including neurological, ophthalmological, and developmental assessments
- Genetic Counseling Session: Meet with our certified genetic counselors to discuss test implications and create a comprehensive family pedigree
- Informed Consent: Understand the benefits, limitations, and potential outcomes of genetic testing
- Insurance Verification: Confirm coverage details with your insurance provider
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and the Midwest region
- Houston and Texas metropolitan areas
- Miami and Florida locations
- Seattle and Pacific Northwest centers
- Boston and New England facilities
- Atlanta and Southeastern locations
Our network of certified genetic testing facilities ensures consistent quality and reliable results regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. The PHYH Gene Refsum Disease NGS Genetic DNA Test provides the clarity needed for proper diagnosis and effective management. Our discounted price of $500 USD makes this advanced genetic testing accessible and affordable.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are available to answer your questions and guide you through the testing process.
Early diagnosis through genetic testing can significantly impact disease progression and quality of life. Take the first step toward definitive answers and personalized care by contacting our team today.
