PROM1 Gene Cone-Rod Dystrophy Type 12 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The PROM1 Gene Cone-Rod Dystrophy Type 12 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited retinal diseases. This advanced testing method utilizes next-generation sequencing technology to analyze the PROM1 gene, which plays a critical role in maintaining the structural integrity of photoreceptor cells in the retina. Cone-rod dystrophy type 12 is a progressive inherited retinal disorder that affects both cone and rod photoreceptors, leading to significant visual impairment over time.
What This Test Measures and Detects
This comprehensive genetic test specifically targets mutations in the PROM1 (Prominin-1) gene, which encodes a protein essential for the formation and maintenance of photoreceptor outer segments. The test identifies:
- Pathogenic variants and mutations in the PROM1 gene
- Single nucleotide polymorphisms (SNPs) associated with cone-rod dystrophy
- Deletions, insertions, and other structural variations
- Inheritance patterns (autosomal recessive or dominant)
- Specific genetic markers linked to disease severity and progression
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color discrimination and central vision
- Night blindness and poor adaptation to dark environments
- Family history of inherited retinal disorders
- Abnormal electroretinogram (ERG) results indicating cone-rod dysfunction
- Planning pregnancy with known family history of retinal diseases
- Unexplained visual field defects or photophobia
Clinical Benefits of Genetic Testing
Undergoing the PROM1 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of vision problems
- Early Intervention: Enables proactive management strategies before significant vision loss occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Helps ophthalmologists develop targeted treatment plans
- Clinical Trial Eligibility: May qualify patients for emerging gene therapies and clinical trials
- Psychological Relief: Reduces uncertainty and provides clarity about disease prognosis
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists and ophthalmologists:
- Positive Result: Indicates the presence of pathogenic mutations in the PROM1 gene, confirming the diagnosis of cone-rod dystrophy type 12
- Negative Result: Suggests that PROM1 gene mutations were not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but may not show symptoms
All results include comprehensive genetic counseling to help you understand the implications for your health and family members.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality genetic testing services with rapid turnaround times of 3-4 weeks.
Take Control of Your Vision Health Today
Don’t let uncertainty about your vision health create unnecessary anxiety. The PROM1 Gene Cone-Rod Dystrophy Type 12 NGS Genetic DNA Test provides the clarity and information needed to make informed decisions about your eye care and family planning. Our team of genetic counselors and ophthalmology specialists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic vision health.
