KAT6A Gene Mental Retardation Autosomal Dominant Type 32 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The KAT6A Gene Mental Retardation Autosomal Dominant Type 32 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations responsible for intellectual disability and developmental challenges. This advanced testing methodology provides crucial insights for patients and families affected by inherited neurological conditions.
What is KAT6A Gene Mental Retardation Type 32?
KAT6A-related disorders represent a spectrum of neurodevelopmental conditions caused by mutations in the KAT6A gene, which plays a vital role in chromatin modification and gene regulation during brain development. Autosomal dominant mental retardation type 32 specifically refers to intellectual disability conditions inherited in an autosomal dominant pattern, where a single copy of the mutated gene is sufficient to cause the disorder.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test specifically targets:
- Sequence variations and mutations in the KAT6A gene
- Point mutations, insertions, and deletions affecting gene function
- Pathogenic variants associated with intellectual disability
- Genetic markers linked to developmental delay patterns
- Inheritance patterns confirming autosomal dominant transmission
The test utilizes next-generation sequencing technology to provide complete coverage of the KAT6A gene, ensuring high sensitivity and specificity in mutation detection.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delays
- Speech and language development impairments
- Motor coordination difficulties and movement disorders
- Facial dysmorphism characteristic of KAT6A-related disorders
- Family history of autosomal dominant intellectual disability
- Multiple family members affected by similar neurological symptoms
- Children with global developmental delay of unknown etiology
Key Benefits of KAT6A Genetic Testing
Comprehensive Diagnostic Advantages
- Accurate Diagnosis: Provides definitive identification of KAT6A gene mutations
- Personalized Treatment Planning: Enables targeted interventions and therapies
- Genetic Counseling Support: Facilitates informed family planning decisions
- Early Intervention Opportunities: Allows for timely therapeutic interventions
- Family Risk Assessment: Identifies inheritance patterns and recurrence risks
- Research Contribution: Contributes to ongoing neurological genetics research
Understanding Your Test Results
Interpretation Guidance
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic KAT6A mutation, confirming the diagnosis of autosomal dominant mental retardation type 32
- Negative Result: Suggests that KAT6A mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Provides information about inheritance patterns for family members
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | KAT6A Gene Mental Retardation Autosomal Dominant Type 32 NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Pricing | $700 |
| Turnaround Time | Comprehensive Analysis | 3-4 Weeks |
| Sample Type | Multiple Options Available | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our KAT6A genetic testing provides the answers you need for informed medical decisions and family planning. With our specialized neurological genetics expertise and advanced NGS technology, you can trust our comprehensive approach to genetic diagnosis.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
