NSDHL Gene CK Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The NSDHL Gene CK Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological conditions. This advanced testing methodology utilizes next-generation sequencing technology to precisely identify mutations in the NSDHL gene, which plays a crucial role in cholesterol biosynthesis and neurological development. Early and accurate diagnosis through this test can significantly impact treatment planning and family management strategies.
What Does This Test Measure?
Our NSDHL Gene CK Syndrome NGS Genetic DNA Test specifically targets and analyzes the NSDHL gene located on the X chromosome. This comprehensive assessment detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Structural rearrangements affecting the NSDHL gene
- Pathogenic variants associated with CK syndrome
The test provides complete coverage of the NSDHL gene coding regions, splice sites, and regulatory elements, ensuring maximum detection sensitivity of 99.9% for clinically relevant variants.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of CK syndrome or related neurological disorders:
- Children with developmental delays and intellectual disabilities
- Individuals with characteristic facial features including coarse facies
- Patients with congenital heart defects or skeletal abnormalities
- Those with family history of X-linked genetic disorders
- Individuals with unexplained neurological symptoms
- Patients with suspected cholesterol biosynthesis disorders
Clinical Benefits of NSDHL Genetic Testing
Undergoing the NSDHL Gene CK Syndrome NGS Genetic DNA Test offers numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of CK syndrome
- Early Intervention: Enables timely implementation of appropriate therapies
- Family Planning: Assists in genetic counseling for family members
- Personalized Care: Guides development of targeted treatment plans
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your NSDHL gene test results:
- Positive Result: Indicates presence of pathogenic NSDHL mutation confirming CK syndrome diagnosis
- Negative Result: Suggests absence of detectable NSDHL mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Important for family members and reproductive planning
Our board-certified genetic counselors provide detailed explanations and guidance for all result types, ensuring you fully understand the implications for your health and family.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | NSDHL Gene CK 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
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session with our certified genetic counselors
- Detailed pedigree chart of family members affected with neurological symptoms
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our NSDHL Gene CK Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of only $500 USD and comprehensive genetic counseling services, you can gain valuable insights into your genetic health.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through every step of the genetic testing process.
Early diagnosis through advanced genetic testing can make a significant difference in managing neurological conditions. Trust our expertise in neurological genetics to provide you with accurate, reliable results and comprehensive support throughout your diagnostic journey.
