PRSS12 Gene Mental Retardation Autosomal Recessive Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The PRSS12 Gene Mental Retardation Autosomal Recessive Type 1 NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test utilizes next-generation sequencing technology to identify mutations in the PRSS12 gene, which plays a crucial role in brain development and cognitive function. Understanding these genetic factors is essential for accurate diagnosis, appropriate medical management, and informed family planning decisions.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the PRSS12 gene, which encodes the serine protease 12 protein. The test detects:
- Pathogenic mutations in the PRSS12 gene associated with autosomal recessive mental retardation type 1
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the PRSS12 gene region
- Compound heterozygous mutations in affected individuals
- Carrier status identification in asymptomatic family members
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals and families experiencing:
- Children with unexplained intellectual disability or developmental delays
- Family history of autosomal recessive mental retardation
- Consanguineous parentage increasing genetic risk factors
- Unexplained neurological developmental disorders in multiple family members
- Couples planning pregnancy with family history of cognitive impairments
- Individuals with suspected genetic neurological conditions without clear diagnosis
Clinical Symptoms and Indications
Patients typically present with various neurological manifestations including:
- Significant intellectual disability from early childhood
- Delayed motor milestones and speech development
- Behavioral abnormalities and social interaction challenges
- Learning difficulties and academic performance issues
- Variable neurological features depending on mutation severity
Benefits of PRSS12 Genetic Testing
Accurate Diagnosis and Medical Management
Receiving a definitive genetic diagnosis through this test provides numerous advantages:
- Precise Diagnosis: Eliminates diagnostic uncertainty and enables targeted medical care
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Early Intervention: Facilitates timely educational and therapeutic interventions
- Genetic Counseling: Supports informed decision-making for extended family members
- Research Contribution: Advances understanding of neurological genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of pathogenic PRSS12 mutations confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Carrier Status: Identifies individuals with single mutation copies who are typically unaffected
- Variant of Uncertain Significance: Requires additional family studies for interpretation
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PRSS12 Gene Mental Retardation Autosomal Recessive Type 1 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 |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
For optimal testing accuracy, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process understanding benefits and limitations
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, San Jose, and many more. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological conditions affect your family’s future. Our PRSS12 genetic testing provides the answers you need for informed medical decisions and family planning. With advanced NGS technology and expert genetic counseling, you’ll receive comprehensive support throughout your testing journey.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
