PDE6H Gene Achromatopsia Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Color Blindness
The PDE6H Gene Achromatopsia Type 6 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, providing precise identification of mutations responsible for achromatopsia type 6. This rare inherited retinal disorder affects the cone photoreceptor cells in the retina, leading to complete color blindness and significant visual impairment. Our advanced testing methodology utilizes next-generation sequencing technology to deliver unparalleled accuracy in genetic variant detection.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets the PDE6H gene, which encodes the gamma subunit of phosphodiesterase 6, a crucial enzyme in the phototransduction cascade. The test detects:
- Pathogenic variants in the PDE6H gene sequence
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions and deletions that disrupt gene expression
- Copy number variations impacting gene dosage
- Regulatory mutations affecting PDE6H expression
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Complete Color Blindness: Inability to perceive any colors, seeing only in shades of gray
- Severe Photophobia: Extreme sensitivity to light and glare
- Reduced Visual Acuity: Typically 20/200 or worse in bright light conditions
- Nystagmus: Involuntary, rhythmic eye movements
- Family History: Known relatives with achromatopsia or similar visual disorders
- Early Childhood Onset: Symptoms typically appearing in infancy or early childhood
- Normal Fundus Examination: Despite significant visual symptoms
Key Benefits of PDE6H Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms the specific genetic cause of visual symptoms
- Personalized Management: Enables tailored visual rehabilitation strategies
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates timely implementation of supportive measures
- Research Participation: Opens opportunities for clinical trials and emerging therapies
- Educational Planning: Helps develop appropriate educational accommodations
- Psychological Support: Reduces uncertainty and provides clarity about the condition
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clinical context:
- Positive Result: Indicates the presence of pathogenic mutations in the PDE6H gene, confirming the diagnosis of achromatopsia type 6
- Negative Result: Suggests that PDE6H mutations are not the cause of symptoms, potentially indicating other genetic or acquired conditions
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | PDE6H Gene Achromatopsia Type 6 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 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified specialists
- Development of detailed family pedigree chart
- Ophthalmological examination records
- Informed consent for genetic testing
Take Control of Your Genetic Health Today
Don’t let uncertainty about your vision condition affect your quality of life. Our PDE6H Gene Achromatopsia Type 6 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can gain valuable insights into your condition and access appropriate management strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling specialists. Take the first step toward understanding your genetic vision condition and exploring personalized treatment options.
