CHM Gene Choroideremia NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disease
The CHM Gene Choroideremia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited retinal disorders. This advanced next-generation sequencing test specifically targets mutations in the CHM gene, which is responsible for choroideremia – a progressive, X-linked retinal degeneration that primarily affects males. Our state-of-the-art testing methodology provides unparalleled accuracy in detecting genetic variations that cause this debilitating eye condition.
What Does This Test Measure and Detect?
This comprehensive genetic analysis utilizes cutting-edge NGS technology to examine the entire CHM gene for pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations
- Regulatory region abnormalities
The test specifically identifies mutations in the CHM gene that encodes Rab escort protein-1 (REP-1), crucial for proper retinal pigment epithelium function and photoreceptor maintenance.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Progressive night blindness beginning in childhood or adolescence
- Gradual peripheral vision loss
- Family history of choroideremia or X-linked retinal degeneration
- Unexplained progressive vision deterioration
- Characteristic fundus findings including choroidal and retinal pigment epithelium atrophy
- Carrier testing for female relatives of affected males
- Pre-symptomatic testing for at-risk family members
Clinical Benefits of CHM Gene Testing
Undergoing this genetic test provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out choroideremia with high accuracy
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates timely management and monitoring
- Carrier Detection: Identifies female carriers for genetic counseling
- Prognostic Information: Helps predict disease progression and visual outcomes
- Research Opportunities: Connects patients with clinical trials and emerging therapies
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the CHM gene, confirming choroideremia diagnosis
- Negative Result: No disease-causing mutation detected, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: For females, indicates carrier status with implications for offspring
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | CHM Gene Choroideremia NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Pediatrics, Genetics |
| Method | NGS Technology |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed pedigree chart
- Documentation of affected family members
- Ophthalmological examination findings
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited retinal conditions affect your quality of life. Our CHM Gene Choroideremia NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic counseling support, you can take proactive steps toward understanding and managing your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
