RAB3GAP1 Gene Warburg Micro Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Warburg Micro Syndrome
The RAB3GAP1 Gene Warburg Micro Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Warburg Micro Syndrome Type 1, a rare autosomal recessive neurodevelopmental disorder. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide definitive molecular diagnosis for individuals presenting with characteristic symptoms of this complex condition.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the RAB3GAP1 gene, which encodes a crucial protein involved in vesicular trafficking and neurotransmitter release. The test detects:
- Pathogenic variants and mutations in the RAB3GAP1 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the RAB3GAP1 locus
- Compound heterozygous mutations in autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
- Infants and children with congenital microcephaly and developmental delays
- Individuals with congenital cataracts or other ocular abnormalities
- Patients exhibiting hypotonia and spasticity progression
- Children with severe intellectual disability and absent speech development
- Individuals with hypogonadism and genital abnormalities
- Patients with brain malformations visible on neuroimaging
- Families with history of consanguinity and similar neurological presentations
Clinical Benefits of Genetic Testing
Undergoing the RAB3GAP1 genetic test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Warburg Micro Syndrome Type 1 with molecular precision
- Family Planning Guidance: Enables accurate genetic counseling for recurrence risk assessment
- Treatment Planning: Informs multidisciplinary care approaches for affected individuals
- Prognostic Information: Provides insights into disease progression and management expectations
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help interpret your results:
- Positive Result: Identifies pathogenic mutations confirming Warburg Micro Syndrome diagnosis
- Negative Result: Suggests alternative diagnoses when clinical features are present
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies asymptomatic individuals with single mutation copies
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | RAB3GAP1 Gene Warburg Micro Syndrome 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 |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with pedigree analysis
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Phoenix, Arizona testing centers
- And all other major US cities
Take the Next Step Toward Genetic Clarity
If you or your loved one presents with symptoms suggestive of Warburg Micro Syndrome Type 1, our specialized genetic testing can provide the answers you need. Our team of genetic counselors and medical professionals are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the RAB3GAP1 Gene Warburg Micro Syndrome Type 1 NGS Genetic DNA Test. Take control of your genetic health journey with our expert diagnostic services.
