KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. Utilizing state-of-the-art Next-Generation Sequencing (NGS) technology, this test provides unparalleled accuracy in detecting mutations associated with Kabuki Syndrome Type 2, a complex genetic disorder affecting multiple body systems.
What Does This Test Measure?
This advanced genetic test specifically analyzes the KDM6A gene, which encodes a histone demethylase enzyme crucial for proper gene regulation during embryonic development. The test detects:
- Point mutations and small insertions/deletions in the KDM6A gene
- Copy number variations affecting gene function
- Pathogenic variants linked to Kabuki Syndrome Type 2
- Novel genetic alterations with clinical significance
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Kabuki Syndrome Type 2, including:
- Distinctive facial features (long palpebral fissures, arched eyebrows)
- Intellectual disability or developmental delays
- Skeletal abnormalities and short stature
- Cardiac defects or congenital heart disease
- Persistent fetal fingertip pads
- Feeding difficulties in infancy
- Hearing loss or vision problems
- Family history of similar symptoms
Clinical Benefits of Genetic Testing
Undergoing the KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Kabuki Syndrome Type 2
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Informs reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely therapeutic interventions for better outcomes
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire gene
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic specialists:
- Positive Result: Indicates the presence of a pathogenic mutation in the KDM6A gene, confirming Kabuki Syndrome Type 2 diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | KDM6A Gene Kabuki Syndrome Type 2 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 proudly offer comprehensive genetic testing services across the United States with convenient 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 genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test provides the answers you need for informed medical management and family planning. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your genetic health.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
