LAS1L Gene Wilson-Turner Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Wilson-Turner Syndrome
The LAS1L Gene Wilson-Turner Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders. This advanced genetic test specifically targets the LAS1L gene, which plays a crucial role in normal neurological development and cellular function. Wilson-Turner Syndrome is a rare X-linked neurodevelopmental condition that primarily affects males, though carrier females may exhibit milder symptoms. Our state-of-the-art Next-Generation Sequencing technology provides unparalleled accuracy in detecting pathogenic variants that contribute to this complex syndrome.
What Does This Test Measure and Detect?
This comprehensive genetic analysis focuses on identifying mutations within the LAS1L gene located on the X chromosome. The test specifically detects:
- Point mutations and single nucleotide variants (SNVs)
- Small insertions and deletions (indels)
- Copy number variations (CNVs) affecting the LAS1L gene
- Frameshift mutations that disrupt protein function
- Nonsense and missense mutations altering gene expression
The LAS1L gene encodes a protein essential for ribosome biogenesis and proper cellular metabolism. Mutations in this gene disrupt normal developmental processes, leading to the characteristic features of Wilson-Turner Syndrome.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following clinical features:
- Intellectual disability or developmental delay of unknown origin
- Distinctive facial features including prominent forehead, deep-set eyes, and full lips
- Growth abnormalities including short stature and microcephaly
- Behavioral challenges such as anxiety, attention deficits, or autism spectrum features
- Family history suggestive of X-linked inheritance pattern
- Unexplained hepatological, nephrological, or endocrinological abnormalities
- Suspected Wilson-Turner Syndrome based on clinical evaluation
Significant Benefits of Genetic Testing
Undergoing the LAS1L Gene Wilson-Turner Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Wilson-Turner Syndrome with high precision
- Personalized Treatment: Enables targeted interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely support services and educational planning
- Medical Management: Guides appropriate monitoring for associated health concerns
- Peace of Mind: Reduces diagnostic uncertainty and provides clarity for families
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic LAS1L gene mutation consistent with Wilson-Turner Syndrome diagnosis
- Negative Result: Suggests no detectable mutations in the LAS1L gene, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: For females, indicates carrier status which may have implications for family planning
All results are accompanied by detailed explanations and recommendations for next steps. Genetic counseling is strongly recommended to fully understand the implications of your test results.
Test Pricing and Information
| Test Feature | Details |
|---|---|
| Test Name | LAS1L Gene Wilson-Turner 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper care and management. Our LAS1L Gene Wilson-Turner Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions. Contact our genetic specialists today to schedule your test or discuss your testing options.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is available to answer your questions, provide detailed information about the testing process, and help you schedule your appointment at a location convenient for you.
