KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for developmental disorders. This advanced molecular test specifically targets the KDM6A gene, which plays a critical role in epigenetic regulation and normal embryonic development. Mutations in this gene are directly associated with Kabuki syndrome type 2, a rare genetic condition characterized by distinctive facial features, growth delays, intellectual disability, and multiple congenital anomalies.
What Does This Test Measure?
Our comprehensive NGS-based test analyzes the entire coding region of the KDM6A gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the KDM6A gene
- Pathogenic variants associated with Kabuki syndrome type 2
- Novel mutations with potential clinical significance
The test utilizes state-of-the-art next-generation sequencing technology, providing unparalleled accuracy and comprehensive coverage of the KDM6A gene region. This advanced methodology ensures detection of even rare and complex genetic variations that might be missed by conventional testing methods.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Characteristic facial features including long palpebral fissures, arched eyebrows, and prominent eyelashes
- Developmental delays in motor skills, speech, and cognitive abilities
- Intellectual disability of varying severity
- Growth deficiencies including short stature and failure to thrive
- Skeletal abnormalities such as brachydactyly or spinal deformities
- Cardiac anomalies including congenital heart defects
- Family history of similar symptoms or confirmed Kabuki syndrome
- Unexplained developmental concerns in early childhood
Clinical Benefits of Genetic Testing
Early and accurate diagnosis through KDM6A genetic testing provides numerous clinical advantages:
- Personalized Medical Management: Enables targeted surveillance for associated health complications
- Early Intervention Planning: Facilitates timely implementation of developmental therapies
- Family Planning Guidance: Provides recurrence risk information for future pregnancies
- Comprehensive Care Coordination: Helps assemble appropriate multidisciplinary care teams
- Educational Planning: Supports development of individualized education programs
- Psychological Support: Reduces diagnostic uncertainty and provides closure for families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret and understand your test results:
- Positive Result: Indicates the presence of a pathogenic KDM6A mutation, confirming Kabuki syndrome type 2 diagnosis
- Negative Result: Suggests that KDM6A mutations are not the cause of symptoms, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation
- Carrier Status: Provides information about inheritance patterns and family risk assessment
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about developmental concerns delay necessary interventions. Our KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning. With results typically available within 3-4 weeks and sample collection options including blood, extracted DNA, or simple blood spot cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the testing process and help you understand what your results mean for your family’s health journey.
