KIF11 Gene Microcephaly with or without Chorioretinopathy Lymphedema or Mental Retardation MCLMR NGS Genetic DNA Test
Comprehensive Genetic Testing for MCLMR Disorders
The KIF11 Gene MCLMR NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations responsible for Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR). This rare genetic disorder affects multiple body systems and requires precise genetic analysis for accurate diagnosis and management.
What Does This Test Detect?
This advanced genetic test specifically targets the KIF11 gene, which encodes a motor protein essential for proper cell division and neuronal development. The test identifies:
- Pathogenic variants in the KIF11 gene
- Single nucleotide polymorphisms (SNPs) associated with MCLMR
- Copy number variations affecting gene function
- Novel mutations that may cause the disorder
Clinical Significance of KIF11 Gene Mutations
Mutations in the KIF11 gene disrupt normal cellular processes, particularly affecting brain development and vascular formation. The protein encoded by this gene plays a crucial role in mitotic spindle formation during cell division, making it essential for proper neurodevelopment and ocular structure formation.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Microcephaly (abnormally small head circumference)
- Developmental delays or intellectual disability
- Vision abnormalities including chorioretinopathy
- Lymphedema (swelling in arms or legs)
- Family history of similar neurological conditions
- Unexplained developmental regression in childhood
Early Detection Benefits
Early genetic diagnosis enables proactive management strategies and helps families understand the inheritance pattern of this autosomal dominant condition. Identification of the specific mutation can guide treatment approaches and provide valuable information for future family planning.
Key Benefits of KIF11 Genetic Testing
- Definitive Diagnosis: Provides conclusive evidence for MCLMR diagnosis
- Family Planning Guidance: Helps assess recurrence risks for future pregnancies
- Personalized Management: Enables targeted interventions and monitoring
- Early Intervention: Facilitates timely therapeutic approaches
- Genetic Counseling: Supports informed decision-making for families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the KIF11 gene, confirming MCLMR diagnosis
- Negative Result: Suggests no detectable mutation in the KIF11 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires further clinical correlation and possibly family studies
Post-Test Guidance
Following testing, our genetic specialists provide personalized recommendations including developmental support, vision monitoring, and management strategies for associated symptoms. Regular follow-up assessments help track progression and adjust care plans as needed.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| KIF11 Gene MCLMR NGS Genetic DNA Test – Discount Price | $500 |
| KIF11 Gene MCLMR NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients nationwide.
Sample Collection and Processing
Test samples can be collected through multiple methods:
- Blood draw at our certified collection centers
- Extracted DNA from previous genetic testing
- One drop of blood on FTA card for convenient sampling
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our KIF11 Gene MCLMR NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With results available in 3-4 weeks and comprehensive genetic counseling support, you’ll have the information necessary to plan the best course of action.
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.
