ATP7A Gene Menkes Disease NGS Genetic DNA Test
Comprehensive Genetic Screening for Copper Metabolism Disorders
The ATP7A Gene Menkes Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This sophisticated test utilizes next-generation sequencing technology to analyze the ATP7A gene, which plays a critical role in copper transport throughout the body. Menkes disease, an X-linked recessive disorder, results from mutations in this essential gene, leading to severe copper deficiency that affects multiple organ systems.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and sequences the entire ATP7A gene to identify pathogenic variants responsible for Menkes disease. The test detects:
- Point mutations, deletions, and insertions in the ATP7A gene
- Missense, nonsense, and frameshift mutations affecting copper transport
- Genetic variants that disrupt ATP7A protein function
- X-linked inheritance patterns characteristic of Menkes disease
- Copper metabolism abnormalities at the genetic level
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with symptoms suggestive of Menkes disease or those with a family history of copper metabolism disorders:
- Infants and children with unexplained neurological deterioration
- Patients exhibiting characteristic “kinky” or steely hair texture
- Children with developmental delays and hypotonia
- Individuals with seizures of unknown origin
- Patients showing signs of copper deficiency despite normal dietary intake
- Families with a history of X-linked neurological disorders
- Newborns with abnormal copper or ceruloplasmin levels
Key Benefits of ATP7A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt intervention before irreversible neurological damage occurs
- Accurate Prognosis: Provides precise genetic information for predicting disease progression
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Targeted Treatment: Guides appropriate copper replacement therapy strategies
- Differential Diagnosis: Helps distinguish Menkes disease from other neurological conditions
- Carrier Detection: Identifies asymptomatic female carriers for genetic counseling
Understanding Your Test Results
Your genetic test results will provide detailed information about your ATP7A gene status:
- Positive Result: Indicates the presence of a pathogenic mutation in the ATP7A gene, confirming Menkes disease diagnosis
- Negative Result: Suggests no detectable mutations in the ATP7A gene, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: For females, indicates whether they carry one copy of the mutated gene
All results are accompanied by comprehensive interpretation from our certified genetic counselors, who provide personalized guidance based on your specific genetic findings and clinical presentation.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| ATP7A Gene Menkes Disease NGS Genetic DNA Test – Discount Price | $500 |
| ATP7A Gene Menkes Disease NGS Genetic DNA Test – Regular Price | $700 |
Convenient Testing Locations Across USA
We have established testing facilities in all major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing with rapid turnaround times of 3-4 weeks.
Sample Collection and Preparation
This test requires one of the following sample types:
- Blood sample collected in EDTA tubes
- Extracted DNA meeting quality specifications
- One drop of blood on FTA card for convenient collection
Prior to testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and benefits of testing
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about potential copper metabolism disorders. Our ATP7A Gene Menkes Disease NGS Genetic DNA Test provides the comprehensive genetic information necessary for accurate diagnosis and effective treatment planning. With our discounted price of $500 USD and convenient locations nationwide, accessing advanced genetic testing has never been easier.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated genetic specialists are ready to guide you through every step of the testing process and help you understand your results.
