ATP7A Gene Spinal Muscular Atrophy Distal X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Neurological Disorders
The ATP7A Gene Spinal Muscular Atrophy Distal X-Linked NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ATP7A gene, which is responsible for X-linked distal spinal muscular atrophy. This progressive neurological condition primarily affects males and manifests as muscle weakness and wasting in the extremities. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that contribute to this rare neuromuscular disorder.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the ATP7A gene located on the X chromosome. The test utilizes next-generation sequencing (NGS) technology to examine the entire coding region of the ATP7A gene, including:
- Complete exonic sequencing of the ATP7A gene
- Detection of point mutations, small insertions, and deletions
- Identification of splice site variants affecting gene function
- Analysis of known pathogenic variants associated with distal SMA
- Assessment of carrier status in female relatives
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Males experiencing progressive muscle weakness in hands and feet
- Individuals with family history of X-linked neurological disorders
- Patients presenting with distal muscle wasting without sensory involvement
- Children or adults with delayed motor milestones and progressive weakness
- Families seeking genetic counseling for inheritance patterns
- Individuals with unexplained progressive muscle atrophy
Key Symptoms and Clinical Indications
The ATP7A gene mutation typically manifests through distinct clinical features that warrant genetic testing:
- Progressive weakness and wasting of distal muscles (hands and feet)
- Difficulty with fine motor skills and hand coordination
- Foot drop and gait abnormalities
- Muscle fasciculations and cramps
- Preserved sensation despite motor weakness
- Onset typically in childhood or early adulthood
Benefits of ATP7A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out ATP7A-related distal SMA with high precision
- Family Planning Guidance: Enables informed reproductive decisions for carriers
- Treatment Planning: Guides appropriate therapeutic interventions and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides essential information for at-risk family members
- Research Contribution: Contributes to ongoing understanding of rare neuromuscular disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your ATP7A gene test results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the ATP7A gene, confirming the diagnosis of X-linked distal spinal muscular atrophy. This information enables:
- Implementation of targeted management strategies
- Referral to appropriate specialists (neurologists, physical therapists)
- Family member testing and genetic counseling
- Access to support groups and resources
Negative Result Interpretation
A negative result suggests that no pathogenic mutations were detected in the ATP7A gene. However, this doesn’t completely rule out a genetic cause, as other genes or mechanisms may be involved. Further evaluation may be recommended.
Variant of Uncertain Significance (VUS)
If a genetic change of unknown clinical significance is identified, our team provides guidance on interpretation and may recommend additional family studies or periodic re-evaluation as scientific knowledge advances.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | ATP7A Gene Spinal Muscular Atrophy Distal X-Linked NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Clinical History: Comprehensive medical history of the patient undergoing testing
- Genetic Counseling: Pre-test genetic counseling session recommended
- Family Pedigree: Detailed family history chart documenting affected relatives
- Informed Consent: Proper understanding of test implications and limitations
Nationwide Accessibility
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 easy access to this essential genetic testing service.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your neurological health continue. The ATP7A Gene Spinal Muscular Atrophy Distal X-Linked NGS Genetic DNA Test provides the clarity and answers you need for proper diagnosis and management. Our team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Early detection and accurate diagnosis are crucial for managing X-linked distal spinal muscular atrophy effectively. Our comprehensive genetic testing service combines advanced technology with expert interpretation to provide you with the answers you need for informed healthcare decisions.
