PEX7 Gene Refsum Disease NGS Genetic DNA Test
Comprehensive Genetic Screening for Refsum Disease
The PEX7 Gene Refsum Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced testing method utilizes next-generation sequencing technology to analyze the PEX7 gene, which plays a critical role in peroxisome function and phytanic acid metabolism. Refsum disease, also known as hereditary motor and sensory neuropathy type IV, is an autosomal recessive disorder that can lead to severe neurological and visual complications if left undiagnosed.
What This Test Measures and Detects
This sophisticated genetic test specifically targets and sequences the entire PEX7 gene to identify pathogenic variants that disrupt normal peroxisomal function. The test detects:
- Point mutations, insertions, and deletions in the PEX7 gene
- Single nucleotide polymorphisms associated with Refsum disease
- Compound heterozygous mutations affecting phytanoyl-CoA hydroxylase activity
- Genetic variations that impair the import of peroxisomal matrix proteins
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Progressive night blindness (nyctalopia) beginning in childhood or adolescence
- Peripheral neuropathy with muscle weakness and sensory loss
- Cerebellar ataxia affecting coordination and balance
- Sensorineural hearing loss developing over time
- Ichthyosis (scaly skin) and cardiac arrhythmias
- Family history of similar neurological or visual symptoms
- Elevated phytanic acid levels in blood tests
- Unexplained retinitis pigmentosa or anosmia
Significant Benefits of Genetic Testing
Undergoing the PEX7 Gene Refsum Disease NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt identification of Refsum disease before irreversible damage occurs
- Personalized Treatment: Guides dietary management strategies, particularly phytanic acid restriction
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Disease Progression Monitoring: Establishes baseline for tracking treatment effectiveness
- Differential Diagnosis: Helps distinguish Refsum disease from other similar neurological conditions
- Therapeutic Guidance: Informs appropriate interventions to prevent complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. The report will include:
- Positive Result: Indicates the presence of pathogenic mutations in the PEX7 gene, confirming Refsum disease diagnosis
- Negative Result: Suggests no disease-causing variants were detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Reveals if you carry one copy of a mutated gene, important for family planning
All positive results should be discussed with a metabolic specialist to develop a comprehensive management plan, including dietary modifications and regular monitoring.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
General Genetics Corporation provides comprehensive PEX7 Gene Refsum Disease testing services across the United States. We have established testing facilities and collection centers in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about potential genetic disorders affect your quality of life. The PEX7 Gene Refsum Disease NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for proactive health management. Our experienced genetic counselors are available to discuss your results and provide personalized guidance.
Book your genetic test now by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and preventing potential complications associated with Refsum disease.
Note: This test requires a genetic counseling session prior to testing to review family history and establish proper clinical context. Turnaround time for results is typically 3-4 weeks from sample receipt. Acceptable sample types include blood, extracted DNA, or one drop of blood on FTA card.
