GPT2 Gene Mental Retardation Autosomal Recessive Type 49 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The GPT2 Gene Mental Retardation Autosomal Recessive Type 49 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for inherited intellectual disabilities. This advanced testing methodology provides families and healthcare providers with critical insights into the genetic basis of developmental challenges, enabling targeted interventions and comprehensive care planning.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the GPT2 (glutamic pyruvic transaminase 2) gene, which plays a crucial role in neurological development and function. The test utilizes next-generation sequencing (NGS) technology to identify:
- Pathogenic variants in the GPT2 gene associated with autosomal recessive mental retardation type 49
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertion and deletion mutations that disrupt normal protein production
- Copy number variations impacting gene dosage and expression
- Compound heterozygous mutations inherited from both parents
Who Should Consider This Genetic Test?
This specialized genetic evaluation is recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delays
- Family history of autosomal recessive neurological disorders
- Consanguineous parentage with neurological concerns
- Multiple family members affected by intellectual disability
- Children with developmental regression or plateau
- Individuals with co-occurring neurological symptoms
Clinical Benefits of GPT2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Precise identification of the underlying genetic cause enables targeted treatment approaches
- Family Planning Guidance: Carrier testing helps inform reproductive decisions and risk assessment
- Early Intervention: Timely diagnosis allows for implementation of appropriate support services
- Medical Management: Results guide healthcare providers in developing personalized care plans
- Genetic Counseling: Comprehensive understanding of inheritance patterns and recurrence risks
- Research Contribution: Participation advances scientific understanding of neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help patients interpret and understand their test outcomes:
- Positive Result: Identification of pathogenic GPT2 mutations confirms diagnosis and guides management strategies
- Negative Result: Absence of detected mutations may suggest alternative genetic or environmental causes
- Variant of Uncertain Significance: Some genetic changes require additional research and family studies
- Carrier Status: Identification of single mutation carriers informs family planning decisions
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GPT2 Gene Mental Retardation Autosomal Recessive Type 49 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
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, and San Jose. Our network of certified genetic counselors and neurological specialists ensures comprehensive care coordination regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological development concerns continue. Our expert team of genetic specialists and neurological consultants is ready to provide the answers and guidance your family needs. Schedule your comprehensive genetic evaluation today and take control of your neurological health journey.
Call or WhatsApp us now at +1(267) 388-9828 to book your GPT2 Gene Mental Retardation Autosomal Recessive Type 49 NGS Genetic DNA Test and receive professional genetic counseling services.
