RPS6KA3 Gene Mental Retardation X-Linked Type 19 NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Intellectual Disability
The RPS6KA3 Gene Mental Retardation X-Linked Type 19 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the RPS6KA3 gene responsible for X-linked intellectual disability disorders. This advanced testing methodology provides families and healthcare providers with definitive answers regarding genetic conditions that affect cognitive development and neurological function.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the RPS6KA3 gene located on the X chromosome, which encodes the ribosomal protein S6 kinase alpha-3. The test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the entire coding region of the gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site alterations affecting gene function
- Genetic variations associated with Coffin-Lowry syndrome
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with the following symptoms or family history:
- Males with unexplained intellectual disability or developmental delays
- Individuals with characteristic facial features including prominent forehead, thick lips, and large ears
- Patients with skeletal abnormalities or short stature
- Those experiencing progressive cognitive decline
- Families with a history of X-linked inheritance patterns of intellectual disability
- Individuals with suspected Coffin-Lowry syndrome
- Patients with stimulus-induced drop episodes or neurological symptoms
Clinical Benefits of Genetic Testing
Undergoing the RPS6KA3 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of the genetic cause of neurological symptoms
- Family Planning Guidance: Enables informed reproductive decisions for carriers
- Personalized Management: Facilitates tailored treatment and intervention strategies
- Early Intervention: Allows for proactive management of developmental challenges
- Genetic Counseling: Provides comprehensive risk assessment for family members
- Research Contribution: Contributes to scientific understanding of X-linked intellectual disabilities
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic mutation in the RPS6KA3 gene, confirming the diagnosis of X-linked mental retardation type 19 or Coffin-Lowry syndrome
- Negative Result: Suggests that no disease-causing mutations were detected in the RPS6KA3 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine clinical significance
- Carrier Status: For female relatives, testing can identify carrier status and recurrence risks
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | RPS6KA3 Gene Mental Retardation X-Linked Type 19 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
Before scheduling your test, we recommend:
- Providing complete clinical history of the patient
- Participating in a genetic counseling session
- Developing a detailed pedigree chart of affected family members
- Consulting with a neurologist or genetic specialist
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 testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic neurological conditions affect your family’s future. Our comprehensive RPS6KA3 genetic testing provides the answers you need for informed healthcare decisions. With our special discounted price of $500 USD (regularly $700), now is the perfect time to gain clarity about your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your RPS6KA3 Gene Mental Retardation X-Linked Type 19 NGS Genetic DNA Test. Our expert team is ready to guide you through every step of the testing process and help you understand your results with compassion and clinical expertise.
