ATM Gene Ataxia-Telangiectasia NGS Genetic DNA Test
Comprehensive Introduction to ATM Gene Testing
The ATM Gene Ataxia-Telangiectasia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ATM (Ataxia-Telangiectasia Mutated) gene, which plays a critical role in DNA repair and cellular response to damage. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive screening for variations associated with Ataxia-Telangiectasia (A-T), a complex multisystem disorder affecting neurological function, immune response, and cancer predisposition.
Ataxia-Telangiectasia is an autosomal recessive condition characterized by progressive neurological deterioration, ocular telangiectasias, immune deficiencies, and heightened cancer susceptibility. Early and accurate diagnosis through ATM gene testing is crucial for implementing appropriate medical interventions, monitoring disease progression, and providing essential genetic counseling for affected families.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based ATM gene analysis identifies:
- Pathogenic mutations in the ATM gene responsible for Ataxia-Telangiectasia
- Missense, nonsense, frameshift, and splice-site variations
- Copy number variations and large genomic rearrangements
- Carrier status for autosomal recessive inheritance patterns
- Genetic markers associated with cancer predisposition risks
Clinical Significance of ATM Gene Mutations
The ATM gene encodes a protein kinase that plays a fundamental role in DNA damage response and cell cycle control. Mutations in this gene disrupt normal cellular repair mechanisms, leading to the characteristic features of Ataxia-Telangiectasia, including progressive cerebellar ataxia, oculomotor apraxia, and increased sensitivity to ionizing radiation.
Who Should Consider ATM Gene Testing
This specialized genetic test is recommended for individuals presenting with:
- Progressive coordination difficulties and balance problems beginning in early childhood
- Ocular telangiectasias (dilated blood vessels in the eyes)
- Recurrent sinopulmonary infections due to immune deficiencies
- Family history of Ataxia-Telangiectasia or unexplained neurological disorders
- Unexplained developmental delays with neurological symptoms
- Increased cancer susceptibility, particularly lymphoid malignancies
- Abnormal sensitivity to radiation therapy or diagnostic imaging
Early Detection Advantages
Early genetic testing enables proactive management strategies, including specialized neurological care, immune support, cancer surveillance protocols, and appropriate genetic counseling for family planning decisions.
Significant Benefits of ATM Gene Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of Ataxia-Telangiectasia, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables tailored medical management based on specific genetic findings
- Family Risk Assessment: Identifies carrier status in relatives and informs reproductive decision-making
- Cancer Surveillance: Facilitates appropriate cancer screening protocols for at-risk individuals
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of ATM-related disorders and treatment development
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your ATM gene test results:
Positive Results
A positive result indicates the presence of pathogenic ATM gene mutations consistent with Ataxia-Telangiectasia diagnosis. Our genetic counselors will provide detailed explanations of the specific mutations identified, their clinical significance, and recommended management strategies.
Negative Results
A negative result suggests that no disease-causing ATM mutations were detected. However, clinical correlation with symptoms and family history remains essential, as rare mutations or technical limitations may occasionally yield false negatives.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance (VUS). These require ongoing monitoring and may be reclassified as more research data becomes available.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with ATM-related conditions
Nationwide Testing Availability
We proudly offer ATM Gene Ataxia-Telangiectasia testing services across the United States, with convenient 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 genetic counselors and neurological specialists ensures comprehensive care coordination.
Take Action Today
Don’t let uncertainty about neurological symptoms or family history delay proper diagnosis. Our expert team is ready to provide the genetic clarity you need for informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your ATM Gene Ataxia-Telangiectasia NGS Genetic DNA Test and take the first step toward definitive diagnosis and personalized care.
Our dedicated genetic specialists will guide you through the testing process, answer your questions, and ensure you receive the comprehensive support needed throughout your diagnostic journey.
