LCAT Gene Fish Eye Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The LCAT Gene Fish Eye Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Fish Eye Disease, a rare autosomal recessive metabolic disorder. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide precise detection of LCAT gene variants that disrupt normal cholesterol metabolism and lead to characteristic corneal opacities.
What is Fish Eye Disease?
Fish Eye Disease, also known as partial LCAT deficiency, is a rare inherited metabolic disorder characterized by the accumulation of cholesterol in the cornea, resulting in distinctive opacities that resemble fish eyes. This condition stems from mutations in the LCAT gene, which encodes the enzyme lecithin-cholesterol acyltransferase responsible for cholesterol esterification in plasma lipoproteins.
What the Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically targets the LCAT gene to identify pathogenic variants that cause:
- Complete LCAT deficiency mutations
- Partial LCAT deficiency variants
- Missense, nonsense, and frameshift mutations
- Regulatory region abnormalities
- Splice site variations affecting enzyme function
The test provides comprehensive coverage of all coding regions, exon-intron boundaries, and known regulatory elements of the LCAT gene, ensuring maximum detection sensitivity for clinically relevant variants.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Progressive corneal opacities resembling fish eyes
- Family history of Fish Eye Disease or LCAT deficiency
- Unexplained corneal clouding in childhood or adulthood
- Abnormal lipid profiles with low HDL cholesterol levels
- Proteinuria or renal abnormalities without clear cause
- Anemia with target cells on peripheral blood smear
- Premature atherosclerosis in the absence of traditional risk factors
Genetic Counseling Recommendations
Prior to testing, we strongly recommend genetic counseling to:
- Discuss inheritance patterns and recurrence risks
- Create a detailed family pedigree chart
- Explain potential outcomes and implications
- Address psychological and emotional considerations
- Plan for result disclosure and follow-up care
Benefits of Taking the LCAT Gene Test
Early genetic diagnosis through our NGS testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of corneal opacities
- Personalized Management: Enables targeted treatment strategies based on genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Therapeutic Guidance: Informs appropriate interventions for associated metabolic abnormalities
- Preventive Care: Facilitates early intervention for renal and cardiovascular complications
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identifies pathogenic variants in the LCAT gene confirming diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with single pathogenic variants who may pass the condition to offspring
Clinical Follow-up Recommendations
Based on your results, our genetic specialists provide tailored recommendations for:
- Ophthalmological monitoring and management
- Lipid profile optimization strategies
- Renal function assessment protocols
- Cardiovascular risk reduction approaches
- Family member testing considerations
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | LCAT Gene Fish Eye 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) Technology |
| Specialty | Metabolic Genetics |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our LCAT Gene Fish Eye Disease NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your metabolic health and inheritance patterns.
Ready to schedule your genetic test? Contact our genetic specialists today to discuss your testing needs and arrange convenient sample collection. Call or WhatsApp us at +1(267) 388-9828 to book your appointment and take the first step toward genetic clarity.
Our experienced team is available to answer your questions, provide detailed test information, and guide you through the genetic testing process with compassion and expertise.
