RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological conditions. This advanced test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the RPS6KA3 gene, which plays a critical role in cellular signaling pathways affecting brain development and function. Coffin-Lowry Syndrome is a rare X-linked genetic disorder that primarily affects males, though females can exhibit milder symptoms. Early and accurate diagnosis through this comprehensive genetic test enables healthcare providers to implement targeted interventions and management strategies.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the RPS6KA3 gene located on the X chromosome, which encodes the ribosomal protein S6 kinase alpha-3 enzyme. The test detects:
- Point mutations, deletions, and insertions in the RPS6KA3 gene
- Pathogenic variants associated with Coffin-Lowry Syndrome
- X-linked inheritance patterns affecting family members
- Genetic markers for progressive neurological deterioration
- Variants impacting intellectual development and skeletal growth
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or family history:
- Developmental delays and intellectual disability, particularly in males
- Distinctive facial features including prominent forehead, widely spaced eyes, and thick lips
- Skeletal abnormalities such as short stature, kyphoscoliosis, and tapered fingers
- Progressive neurological symptoms including stimulus-induced drop episodes
- Family history of X-linked intellectual disability or Coffin-Lowry Syndrome
- Unexplained cognitive impairment with characteristic physical features
- Children showing developmental regression or unusual growth patterns
Benefits of RPS6KA3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Coffin-Lowry Syndrome with high precision
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely implementation of educational and therapeutic strategies
- Medical Management: Guides appropriate medical care and monitoring for associated complications
- Genetic Counseling: Provides valuable information for at-risk family members
- Research Contribution: Advances understanding of rare genetic neurological disorders
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic variant in the RPS6KA3 gene, confirming Coffin-Lowry Syndrome diagnosis
- Negative Result: Suggests no detectable mutation in the RPS6KA3 gene, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: For females, indicates potential to pass the condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | RPS6KA3 Gene Coffin-Lowry 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 |
Pre-Test Requirements and Preparation
To ensure optimal testing accuracy and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Neurological evaluation and developmental assessment records
Nationwide Accessibility Across USA
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, and many more. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted pricing at $500 and comprehensive genetic counseling support, you can make informed decisions about your health and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take control of your genetic health with confidence and precision.
