XRCC4 Gene Short Stature Microcephaly and Endocrine Dysfunction NGS Genetic DNA Test
Comprehensive Genetic Analysis for Developmental Disorders
The XRCC4 Gene Short Stature Microcephaly and Endocrine Dysfunction NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare genetic conditions affecting growth, brain development, and endocrine function. This specialized test utilizes next-generation sequencing technology to analyze the XRCC4 gene, which encodes a critical protein involved in DNA double-strand break repair through non-homologous end joining pathways.
What Does This Test Measure?
This advanced genetic test specifically targets and sequences the entire XRCC4 gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the XRCC4 gene
- Structural variants impacting gene function
The XRCC4 protein plays a vital role in maintaining genomic stability by participating in DNA repair mechanisms. Mutations in this gene can lead to impaired DNA repair capacity, resulting in cellular dysfunction that manifests as growth retardation, microcephaly, and endocrine system abnormalities.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following clinical features:
- Growth Concerns: Significant short stature below the 3rd percentile for age and gender
- Neurological Features: Microcephaly (head circumference below the 3rd percentile)
- Endocrine Abnormalities: Delayed puberty, growth hormone deficiency, or other hormonal imbalances
- Developmental Delays: Cognitive impairment or learning disabilities
- Family History: Known family members with similar symptoms or confirmed XRCC4 mutations
- Unexplained Syndromes: Complex presentations involving multiple body systems
Benefits of XRCC4 Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing the XRCC4 Gene NGS Test provides numerous clinical benefits:
- Accurate Diagnosis: Provides definitive genetic confirmation of XRCC4-related disorders
- Personalized Management: Enables targeted treatment approaches based on genetic findings
- Family Planning: Offers valuable information for reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of appropriate therapies
- Research Contribution: Contributes to scientific understanding of rare genetic conditions
Understanding Your Test Results
Interpretation Guidance
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Identification of a pathogenic XRCC4 mutation confirms the genetic basis of symptoms and enables targeted management strategies
- Negative Result: Absence of detectable XRCC4 mutations suggests other genetic or non-genetic causes for the clinical presentation
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis for proper interpretation
- Carrier Status: Identification of individuals who carry one copy of a mutated gene but may not show symptoms
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | XRCC4 Gene Short Stature Microcephaly and Endocrine Dysfunction 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history documenting symptoms and developmental concerns
- Genetic counseling session to create a detailed family pedigree chart
- Information about affected family members with similar conditions
- Previous medical evaluations and test results
Nationwide Testing Availability
We proudly offer comprehensive genetic 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, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our XRCC4 Gene NGS Test provides the clarity needed for informed medical decisions and personalized care planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
