KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Kabuki Syndrome
The KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare developmental disorders. This specialized test utilizes cutting-edge next-generation sequencing technology to analyze the KMT2D gene, which plays a critical role in epigenetic regulation and developmental processes. Kabuki syndrome type 1 is a rare congenital disorder characterized by distinctive facial features, growth deficiencies, and multiple system involvement. Early and accurate diagnosis through this comprehensive genetic analysis enables healthcare providers to implement targeted interventions and personalized treatment strategies.
What Does This Test Detect?
This advanced genetic test specifically targets mutations and variations in the KMT2D gene, which encodes a histone methyltransferase essential for proper embryonic development and cellular differentiation. The test identifies:
- Pathogenic variants in the KMT2D gene sequence
- Deletion and duplication events affecting gene function
- Novel mutations associated with Kabuki syndrome type 1
- Inheritance patterns for family planning purposes
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Kabuki syndrome, including:
- Infants and children with distinctive facial characteristics (long palpebral fissures, arched eyebrows, prominent ears)
- Patients experiencing developmental delays or intellectual disability
- Individuals with growth retardation and failure to thrive
- Patients presenting with skeletal abnormalities or congenital heart defects
- Those with a family history suggestive of autosomal dominant inheritance
- Individuals with multiple congenital anomalies affecting different organ systems
Key Benefits of Genetic Testing
Undergoing the KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Kabuki syndrome type 1 with high accuracy
- Early Intervention: Enables timely implementation of developmental therapies and medical management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides healthcare providers in developing targeted treatment plans
- Prognostic Information: Helps anticipate potential health challenges and complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your KMT2D gene status:
- Positive Result: Indicates the presence of a pathogenic variant in the KMT2D gene, confirming Kabuki syndrome type 1 diagnosis
- Negative Result: Suggests absence of detectable mutations in the KMT2D gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Provides information about inheritance patterns for family members
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance and appropriate next steps.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our experienced genetic counselors and cutting-edge NGS technology provide the answers you need for informed healthcare decisions. Schedule your KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test today and take control of your genetic health journey.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or learn more about our comprehensive genetic testing services.
