SMARCB1 Gene Mental Retardation Autosomal Dominant Type 15 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The SMARCB1 Gene Mental Retardation Autosomal Dominant Type 15 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological developmental conditions. This advanced test specifically targets mutations in the SMARCB1 gene, which plays a crucial role in chromatin remodeling and neural development. When this gene functions improperly, it can lead to autosomal dominant intellectual disability type 15, a condition characterized by varying degrees of cognitive impairment and developmental challenges.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology enables comprehensive analysis of the SMARCB1 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting the SMARCB1 gene
- Pathogenic variants associated with Coffin-Siris syndrome spectrum
- Genetic markers for autosomal dominant intellectual disability
The test provides 99.9% accuracy in detecting clinically relevant variants, offering families and healthcare providers definitive diagnostic information for appropriate medical management and intervention planning.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals exhibiting:
- Unexplained developmental delays in childhood
- Intellectual disability of unknown origin
- Family history of autosomal dominant neurological disorders
- Suspected Coffin-Siris syndrome features
- Multiple family members with similar cognitive challenges
- Children with speech and language delays alongside cognitive impairment
- Individuals with distinctive facial features associated with SMARCB1 mutations
Significant Benefits of Genetic Testing
Undergoing the SMARCB1 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Obtain definitive answers about the genetic basis of neurological symptoms
- Family Planning Guidance: Understand inheritance patterns and recurrence risks
- Personalized Treatment: Enable targeted interventions and educational support
- Early Intervention: Facilitate timely therapeutic approaches for better outcomes
- Reduced Diagnostic Odyssey: Avoid unnecessary testing and medical procedures
- Psychological Relief: Provide clarity and reduce uncertainty for families
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test results:
- Positive Result: Indicates a pathogenic variant in the SMARCB1 gene, confirming the diagnosis of autosomal dominant intellectual disability type 15
- Negative Result: Suggests no detectable SMARCB1 mutation, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies a genetic change whose clinical significance requires further study
- Carrier Status: Determines if unaffected individuals carry the mutation and risk passing it to offspring
Our certified genetic counselors provide detailed explanations of results, inheritance patterns, and recommendations for next steps in medical management.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Pre-test Requirements: Clinical history and genetic counseling session
- Specialty: Neurology and Genetics
- Testing Method: Next-Generation Sequencing (NGS) Technology
Nationwide Accessibility
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 more. Our network ensures accessible genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms continue. Our expert team of genetic counselors and neurologists is ready to help you understand your genetic profile and make informed healthcare decisions. Early diagnosis can significantly impact treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the SMARCB1 Gene Mental Retardation Autosomal Dominant Type 15 NGS Genetic DNA Test. Take control of your genetic health journey with confidence and professional support.
