LIG4 Gene LIG4 Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for LIG4 Syndrome
The LIG4 Gene LIG4 Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the LIG4 gene, which encodes DNA ligase IV—a critical enzyme involved in DNA double-strand break repair through non-homologous end joining. This sophisticated genetic analysis provides essential insights into LIG4 syndrome, a rare autosomal recessive disorder characterized by combined immunodeficiency, growth retardation, microcephaly, and developmental delays.
What Does the LIG4 Gene Test Measure?
This advanced next-generation sequencing (NGS) test specifically targets and analyzes the entire coding region of the LIG4 gene to identify pathogenic variants, including:
- Point mutations and small insertions/deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene function
- Copy number variations within the LIG4 gene region
Who Should Consider This Genetic Test?
This specialized testing is recommended for individuals presenting with clinical features suggestive of LIG4 syndrome, including:
- Recurrent and severe bacterial, viral, or fungal infections
- Combined immunodeficiency with low T and B cell counts
- Microcephaly and developmental delays
- Growth retardation and failure to thrive
- Radiation sensitivity and increased chromosomal breakage
- Bone marrow failure or pancytopenia
- Family history of similar immunological or developmental disorders
Key Benefits of LIG4 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of LIG4 syndrome
- Personalized Treatment: Guides targeted therapeutic interventions and management strategies
- Genetic Counseling: Enables informed family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of appropriate medical care
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic evaluation
Understanding Your Test Results
Your LIG4 genetic test results will be carefully interpreted by our expert geneticists and clinicians:
- Positive Result: Identification of pathogenic variants confirms LIG4 syndrome diagnosis and guides specific treatment approaches
- Negative Result: Absence of detectable mutations may suggest alternative diagnoses requiring further evaluation
- Variant of Uncertain Significance: Some genetic changes require additional family studies for proper interpretation
- Carrier Status: Identification of single pathogenic variants indicates carrier status with implications for family planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | LIG4 Gene LIG4 Syndrome 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 |
| Specialty | Dermatology, Genetics, Immunology |
| Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing the LIG4 genetic test, patients should provide:
- Complete clinical history documenting symptoms and previous evaluations
- Participation in genetic counseling session to create detailed family pedigree
- Informed consent for genetic testing and result interpretation
Nationwide Testing Availability
We proudly offer the LIG4 Gene LIG4 Syndrome NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients 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 nationwide.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of LIG4 syndrome, don’t delay in seeking proper genetic evaluation. Our comprehensive testing provides the clarity needed for effective treatment planning and management of this complex disorder.
Book your LIG4 genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take control of your health journey with accurate genetic insights from America’s leading diagnostic provider.
