ATR Gene Seckel Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Microcephalic Primordial Dwarfism
The ATR Gene Seckel Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of medical genetics, specifically designed to identify mutations in the ATR (Ataxia Telangiectasia and Rad3-related) gene. This comprehensive genetic analysis plays a pivotal role in confirming diagnoses of Seckel Syndrome Type 1, a rare autosomal recessive disorder characterized by severe growth retardation and distinctive clinical features.
What Does This Test Measure and Detect?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the ATR gene for pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations affecting gene function
- Compound heterozygous mutations
The ATR gene encodes a crucial protein involved in DNA damage response and cell cycle regulation. Mutations in this gene disrupt normal cellular processes, leading to the characteristic features of Seckel Syndrome Type 1, which falls under the broader category of microcephalic primordial dwarfism disorders.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with the following clinical indications:
- Infants and children exhibiting severe intrauterine growth retardation
- Individuals with proportionate short stature and microcephaly
- Patients displaying the characteristic “bird-headed” facial appearance
- Those with intellectual disability of varying severity
- Individuals showing skeletal abnormalities including clinodactyly
- Patients with suspected primordial dwarfism syndromes
- Family members of individuals with confirmed Seckel Syndrome
- Couples with family history seeking preconception genetic counseling
Clinical Benefits of ATR Gene Testing
Undergoing the ATR Gene Seckel Syndrome Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Seckel Syndrome Type 1 with high accuracy
- Personalized Management: Enables tailored medical care and surveillance protocols
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Early Intervention: Facilitates timely implementation of supportive therapies
- Genetic Counseling: Supports comprehensive family risk assessment
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your ATR gene test results:
- Positive Result: Indicates the presence of pathogenic ATR gene mutations confirming Seckel Syndrome Type 1 diagnosis
- Negative Result: Suggests that ATR gene mutations are not detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated ATR gene
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ATR Gene Seckel Syndrome Type 1 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 |
| Specialty | Pediatrics |
| Department | Genetics |
| Testing Method | NGS Technology |
| Disease Category | Dysmorphology |
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, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Indianapolis, Charlotte, San Francisco, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized ATR Gene Seckel Syndrome Type 1 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
