CNKSR2 Gene Intellectual Disability Nonsyndromic CNKSR2 Related NGS Genetic DNA Test
Understanding CNKSR2 Gene Intellectual Disability Testing
The CNKSR2 Gene Intellectual Disability NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the CNKSR2 gene that cause nonsyndromic intellectual disability. This comprehensive test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide accurate and reliable genetic analysis for individuals and families affected by unexplained cognitive impairments.
What is CNKSR2 Gene Intellectual Disability?
CNKSR2-related intellectual disability is a rare genetic condition characterized by cognitive impairment without additional physical abnormalities or syndromic features. The CNKSR2 gene plays a crucial role in brain development and neuronal function, particularly in the formation and maintenance of synapses – the connections between nerve cells that enable learning and memory processes.
What the Test Measures and Detects
This advanced genetic test specifically targets the CNKSR2 gene using Next-Generation Sequencing technology to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the CNKSR2 gene
- Pathogenic variants known to cause intellectual disability
- Novel mutations with potential clinical significance
Technical Methodology
The test employs comprehensive NGS panel sequencing that covers all exons and flanking intronic regions of the CNKSR2 gene. This approach ensures maximum detection sensitivity for various mutation types while maintaining high specificity through rigorous bioinformatics analysis and confirmation by Sanger sequencing when necessary.
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delay
- Family history of nonsyndromic intellectual disability
- Learning difficulties without physical abnormalities
- Speech and language development delays
- Memory and cognitive processing challenges
- Individuals with suspected genetic intellectual disability
Clinical Indications
Healthcare providers typically recommend this test when:
- Standard developmental assessments indicate cognitive impairment
- Family history suggests genetic inheritance patterns
- Other common causes of intellectual disability have been ruled out
- There’s a need for precise genetic diagnosis for treatment planning
Benefits of CNKSR2 Genetic Testing
Undergoing CNKSR2 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of CNKSR2-related intellectual disability
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Treatment Guidance: Helps tailor educational and therapeutic interventions
- Prognostic Information: Offers insights into potential developmental trajectories
- Early Intervention: Facilitates timely implementation of support services
- Genetic Risk Assessment: Identifies carrier status in family members
Understanding Your Test Results
Test results are carefully analyzed and interpreted by our team of certified genetic counselors and neurologists:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the CNKSR2 gene. This confirms the genetic basis of intellectual disability and provides valuable information for:
- Developing personalized educational plans
- Implementing appropriate therapeutic interventions
- Understanding inheritance patterns within the family
- Accessing specialized support services
Negative Result
A negative result means no pathogenic mutations were detected in the CNKSR2 gene. This information helps:
- Rule out CNKSR2-related intellectual disability
- Guide further diagnostic investigations
- Explore alternative genetic or environmental causes
- Provide reassurance when appropriate
Variant of Uncertain Significance (VUS)
In some cases, the test may identify genetic changes with unknown clinical significance. Our genetic counseling team provides comprehensive guidance on:
- Interpreting VUS results
- Recommended follow-up testing
- Family studies to clarify significance
- Ongoing monitoring as scientific knowledge evolves
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CNKSR2 Gene Intellectual Disability Nonsyndromic CNKSR2 Related NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurological Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Family pedigree chart documenting affected relatives
- Relevant medical records and previous test results
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas locations
- Phoenix and Southwest facilities
- And many more locations nationwide
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about intellectual disability affect your family’s future. Our comprehensive CNKSR2 genetic testing provides the answers you need for informed decision-making and personalized care planning.
Ready to schedule your test? Contact our genetic specialists today:
Phone: +1(267) 388-9828
Our team is available to answer your questions, discuss insurance coverage options, and help you schedule your appointment at a location convenient for you.
Take control of your genetic health journey with the precision and expertise of General Genetics Corporation – your trusted partner in neurological genetic diagnostics.
