ATP7B Gene Wilson Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Wilson Disease Detection
The ATP7B Gene Wilson Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for identifying Wilson disease, a rare autosomal recessive disorder affecting copper metabolism. This advanced testing method provides crucial insights for early intervention and personalized treatment strategies.
What is Wilson Disease?
Wilson disease is a genetic disorder characterized by excessive copper accumulation in the liver, brain, and other vital organs. The condition results from mutations in the ATP7B gene, which plays a critical role in copper transport and elimination from the body. Without proper diagnosis and treatment, Wilson disease can lead to severe liver damage, neurological complications, and potentially fatal outcomes.
What Does This Test Measure?
The ATP7B Gene Wilson Disease NGS Genetic DNA Test utilizes Next-Generation Sequencing technology to comprehensively analyze the ATP7B gene for:
- Point mutations and single nucleotide variations
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with Wilson disease
- Carrier status identification
This comprehensive analysis detects over 99% of known mutations in the ATP7B gene, providing highly accurate results for clinical decision-making.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Liver-related symptoms: Unexplained hepatitis, elevated liver enzymes, cirrhosis, or acute liver failure
- Neurological manifestations: Tremors, dystonia, coordination difficulties, speech problems, or movement disorders
- Psychiatric symptoms: Depression, anxiety, personality changes, or cognitive impairment
- Ophthalmological findings: Kayser-Fleischer rings in the cornea
- Family history: Known Wilson disease in relatives or consanguineous parents
- Screening purposes: Siblings of diagnosed patients for early detection
Benefits of ATP7B Genetic Testing
- Early Diagnosis: Enables detection before irreversible organ damage occurs
- Accurate Confirmation: Provides definitive diagnosis when clinical symptoms are ambiguous
- Family Planning: Identifies carrier status for genetic counseling
- Personalized Treatment: Guides appropriate copper-chelating therapy and dietary management
- Prevention of Complications: Helps prevent liver failure, neurological damage, and other serious outcomes
- Cost-Effective: Early detection reduces long-term healthcare costs associated with advanced disease management
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of the following categories:
- Positive for Pathogenic Variants: Two confirmed mutations indicate Wilson disease diagnosis, requiring immediate medical intervention and treatment initiation
- Carrier Status: One pathogenic mutation identifies you as a carrier with no disease symptoms but potential risk for offspring
- Negative Result: No detected mutations significantly reduce the likelihood of Wilson disease, though clinical correlation remains essential
- Variants of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation and family studies
Important: All results should be interpreted by a qualified genetic counselor or healthcare provider in the context of clinical findings and family history.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ATP7B Gene Wilson 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 |
Pre-Test Requirements
Before scheduling your ATP7B genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to understand implications and create family pedigree
- Discussion of potential outcomes and their impact on treatment decisions
- Informed consent process for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Our state-of-the-art laboratories ensure consistent, high-quality testing results regardless of collection location.
Take Control of Your Health Today
Early detection of Wilson disease through ATP7B genetic testing can be life-saving. Don’t wait for symptoms to progress – take proactive steps toward accurate diagnosis and effective treatment.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and test appointment. Our genetic specialists are available to answer your questions and guide you through the testing process.
Alternatively, book your ATP7B Gene Wilson Disease NGS Genetic DNA Test online through our secure patient portal. Take the first step toward understanding your genetic health and preventing serious complications associated with copper metabolism disorders.
