EHMT1 Gene Kleefstra Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The EHMT1 Gene Kleefstra Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of medical genetics, specifically designed to identify mutations in the EHMT1 gene that cause Kleefstra syndrome. This rare neurodevelopmental disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive analysis of the EHMT1 gene, offering families and healthcare providers definitive answers about this complex condition.
What Does This Test Measure?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to thoroughly examine the EHMT1 gene for pathogenic variants, including:
- Point mutations and small insertions/deletions
- Copy number variations affecting the EHMT1 gene
- Regulatory region abnormalities
- Complex structural rearrangements
The EHMT1 gene encodes the euchromatic histone-lysine N-methyltransferase 1 enzyme, which plays a crucial role in epigenetic regulation and gene expression control during development. Mutations in this gene disrupt normal chromatin remodeling processes, leading to the characteristic features of Kleefstra syndrome.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Kleefstra syndrome, including:
- Developmental Delays: Significant delays in reaching motor, speech, and cognitive milestones
- Intellectual Disability: Moderate to severe intellectual impairment
- Distinctive Facial Features: Characteristic facial appearance including brachycephaly, synophrys, midface hypoplasia, and protruding tongue
- Behavioral Characteristics: Autism spectrum features, apathy, or catatonic-like episodes
- Associated Medical Conditions: Congenital heart defects, renal anomalies, epilepsy, or severe infections
- Family History: Individuals with family members diagnosed with Kleefstra syndrome or similar neurodevelopmental disorders
Key Benefits of EHMT1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out Kleefstra syndrome with high accuracy
- Personalized Management: Enables targeted medical surveillance and intervention strategies
- Genetic Counseling: Provides accurate recurrence risk information for family planning
- Early Intervention: Facilitates timely access to appropriate therapies and educational support
- Research Contribution: Contributes to ongoing research and understanding of rare genetic disorders
- Insurance and Support: Helps qualify for specialized services and support programs
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your EHMT1 gene analysis:
- Positive Result: Identification of a pathogenic mutation confirms Kleefstra syndrome diagnosis and enables appropriate medical management
- Negative Result: No mutation detected significantly reduces the likelihood of Kleefstra syndrome, though clinical correlation remains essential
- Variant of Uncertain Significance: Some genetic changes require additional family studies or research correlation
- Carrier Status: Identifies individuals who may pass the condition to future generations
All results are accompanied by detailed explanations and recommendations for follow-up care. Our genetic counseling team is available to help you understand your results and their implications for your family.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EHMT1 Gene Kleefstra Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as 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 genetic testing services nationwide.
Take the Next Step Toward Answers
If you or your loved one exhibits symptoms consistent with Kleefstra syndrome, don’t delay in seeking genetic clarification. Our EHMT1 Gene Kleefstra Syndrome NGS Genetic DNA Test provides the comprehensive analysis needed for accurate diagnosis and informed medical decision-making.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Our experienced genetic counselors are available to discuss your concerns, explain the testing process, and help you determine if this test is appropriate for your situation. Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life for individuals with Kleefstra syndrome.
