ATP7A Gene Occipital Horn Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Copper Transport Disorders
The ATP7A Gene Occipital Horn Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with copper metabolism disorders. This specialized genetic analysis utilizes next-generation sequencing technology to examine the ATP7A gene, which plays a critical role in copper transport throughout the body. Early detection through this comprehensive testing can significantly impact treatment outcomes and quality of life for affected individuals.
What Does This Test Measure?
This advanced genetic test specifically targets the ATP7A gene, which encodes a copper-transporting ATPase essential for proper copper absorption and distribution. The test detects:
- Point mutations, deletions, and insertions in the ATP7A gene
- Genetic variations associated with Menkes disease
- Mutations causing occipital horn syndrome
- Copper transport pathway abnormalities
- Inheritance patterns for genetic counseling
Who Should Consider This Test?
This genetic test is recommended for individuals displaying symptoms suggestive of copper transport disorders, including:
- Infants with neurological deterioration and developmental delays
- Children with characteristic “kinky” or sparse hair texture
- Individuals with connective tissue abnormalities and joint hypermobility
- Patients with occipital exostoses (bony protrusions at skull base)
- Those with family history of Menkes disease or copper metabolism disorders
- Individuals with unexplained seizures and hypotonia
- Patients showing signs of copper deficiency despite normal dietary intake
Clinical Benefits of Genetic Testing
Undergoing the ATP7A Gene Occipital Horn Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Early Intervention: Enables prompt copper-histidine treatment for Menkes disease
- Accurate Diagnosis: Provides definitive genetic confirmation of copper transport disorders
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides appropriate management strategies based on specific mutations
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of copper metabolism disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of ATP7A gene mutations associated with copper transport disorders. This confirms the diagnosis and guides specific treatment approaches.
- Negative Result: Suggests that no disease-causing mutations were detected in the ATP7A gene, though clinical correlation remains essential.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis to determine clinical significance.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically do not show symptoms.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history documenting neurological symptoms and developmental milestones
- Participation in genetic counseling session to create detailed family pedigree
- Documentation of any previous copper studies or metabolic testing
- Information about family members with similar symptoms or confirmed diagnoses
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, and San Jose. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about potential copper transport disorders. Early genetic testing can make a significant difference in treatment outcomes and quality of life. Our team of expert genetic counselors and neurologists is ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your ATP7A Gene Occipital Horn Syndrome NGS Genetic DNA Test or to speak with our genetic counseling team. Take the first step toward understanding your genetic health and ensuring the best possible care for you and your family.
