KANSL1 Gene Koolen Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The KANSL1 Gene Koolen Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying Koolen-de Vries syndrome, a rare genetic condition characterized by developmental delays, intellectual disability, and distinctive physical features. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate, reliable results for patients and families seeking answers to complex developmental concerns.
What Does the KANSL1 Gene Test Measure?
This specialized genetic test specifically targets the KANSL1 gene located on chromosome 17q21.31, which plays a critical role in chromatin modification and gene regulation. The test detects:
- Point mutations in the KANSL1 gene
- Small insertions and deletions affecting gene function
- Gene deletions that may cause haploinsufficiency
- Variants affecting protein structure and function
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following clinical features:
- Developmental delay or intellectual disability of unknown cause
- Distinctive facial features including long face, upslanting palpebral fissures, and epicanthal folds
- Hypotonia (low muscle tone) in infancy
- Feeding difficulties during early childhood
- Congenital heart defects or other structural anomalies
- Seizures or epilepsy
- Behavioral characteristics such as friendly demeanor and social engagement
- Family history suggestive of autosomal dominant inheritance
Key Benefits of KANSL1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Koolen-de Vries syndrome with high precision
- Personalized Care Planning: Enables targeted interventions and management strategies
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely access to appropriate therapies and educational support
- Medical Management: Guides monitoring for associated health concerns and complications
- Psychological Relief: Offers clarity and understanding for families seeking answers
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Identification of a pathogenic variant in the KANSL1 gene confirms Koolen-de Vries syndrome diagnosis
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and reproductive planning
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 Details
| Test Component | Details |
|---|---|
| Test Name | KANSL1 Gene Koolen 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process addressing benefits and limitations
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing 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 collection centers ensures easy access to this specialized genetic testing service.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about developmental concerns continue. Our expert team of genetic specialists is ready to provide the answers and guidance your family needs. With advanced NGS technology and comprehensive genetic counseling support, we deliver accurate, reliable results that can transform healthcare management and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your KANSL1 Gene Koolen Syndrome NGS Genetic DNA Test and take the first step toward genetic clarity and personalized care.
