PIK3R1 Gene SHORT Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for SHORT Syndrome Diagnosis
The PIK3R1 Gene SHORT Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the PIK3R1 gene, which plays a critical role in the development of SHORT syndrome. This rare genetic disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced Next-Generation Sequencing technology provides unparalleled accuracy in detecting even the most subtle genetic variations associated with this complex condition.
What Does This Test Measure?
This specialized genetic test specifically analyzes the PIK3R1 gene using state-of-the-art Next-Generation Sequencing technology to identify pathogenic variants responsible for SHORT syndrome. The test examines:
- Complete coding regions of the PIK3R1 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and structural rearrangements
- Point mutations, insertions, and deletions affecting gene function
The PIK3R1 gene encodes regulatory subunits of phosphoinositide 3-kinase (PI3K), which is essential for cellular signaling pathways controlling growth, metabolism, and development. Mutations in this gene disrupt normal PI3K signaling, leading to the characteristic features of SHORT syndrome.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of SHORT syndrome, including:
- Children with unexplained short stature and growth retardation
- Individuals exhibiting joint hyperextensibility and connective tissue abnormalities
- Patients with ocular abnormalities including deep-set eyes and Rieger anomaly
- Those experiencing delayed teething and dental development issues
- Individuals with characteristic facial features such as triangular face shape and thin lips
- Patients with insulin resistance or diabetes mellitus
- Families with history of similar symptoms across generations
Key Benefits of PIK3R1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out SHORT syndrome with high precision
- Personalized Management: Enables tailored treatment approaches based on genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of growth monitoring and developmental support
- Comprehensive Care Coordination: Helps coordinate multidisciplinary care involving endocrinology, ophthalmology, and orthopedics
- Prognostic Information: Offers insights into potential disease progression and associated health risks
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your PIK3R1 gene analysis:
- Positive Result: Identification of a pathogenic mutation confirms SHORT syndrome diagnosis and enables targeted management strategies
- Negative Result: Absence of detectable mutations may suggest alternative diagnoses or rare genetic variations not covered by current testing
- Variant of Uncertain Significance: Some genetic changes require additional family studies or research correlation for definitive interpretation
- Carrier Status: Identifies individuals who may pass the condition to offspring while being unaffected themselves
All results are accompanied by detailed explanations and recommendations for follow-up care. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent quality and reliable results regardless of location.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our PIK3R1 Gene SHORT Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With results available in just 3-4 weeks and sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through every step of the testing process and help you understand your genetic health.
