SHOX Gene Short Stature Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Growth Disorders
The SHOX Gene Short Stature Syndrome NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering precise identification of genetic mutations responsible for short stature conditions. This advanced testing methodology utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the SHOX gene, which plays a fundamental role in skeletal development and growth regulation.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets the SHOX (Short Stature Homeobox) gene located on the X and Y chromosomes. The test detects:
- Complete and partial gene deletions affecting SHOX expression
- Point mutations and single nucleotide variations
- Gene duplications and structural rearrangements
- Regulatory region mutations impacting gene function
- Various genetic variants associated with Léri-Weill dyschondrosteosis and Turner syndrome
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained short stature in childhood or adolescence
- Disproportionate body measurements with shorter limbs
- Family history of short stature or skeletal abnormalities
- Clinical features suggestive of Léri-Weill dyschondrosteosis
- Madelung deformity of the wrist
- Growth patterns inconsistent with familial height potential
- Suspected Turner syndrome in females
- Children with idiopathic short stature unresponsive to growth hormone therapy
Significant Benefits of SHOX Gene Testing
Undergoing SHOX gene testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive genetic confirmation of SHOX-related disorders
- Personalized Treatment Planning: Enables targeted growth hormone therapy and management strategies
- Genetic Counseling: Offers valuable information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely treatment initiation for optimal growth outcomes
- Psychological Benefits: Reduces uncertainty and provides clarity about the condition
- Comprehensive Analysis: NGS technology ensures high detection rate for various mutation types
Understanding Your Test Results
Your SHOX gene test results will be carefully interpreted by our expert geneticists and presented with comprehensive guidance:
- Positive Result: Indicates the presence of a pathogenic SHOX gene mutation, confirming the genetic basis for short stature
- Negative Result: Suggests that SHOX gene mutations are not responsible for the clinical presentation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Provides information about inheritance patterns and family risk assessment
All positive results include detailed recommendations for management, treatment options, and follow-up care. Our genetic counseling team provides comprehensive support to help you understand the implications of your results and make informed healthcare decisions.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| SHOX Gene Short Stature Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| SHOX Gene Short Stature Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located branches 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, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about growth disorders affect your quality of life. Our comprehensive SHOX Gene Short Stature Syndrome NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment planning. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or one drop of blood on FTA card, getting tested has never been more convenient.
Book your appointment today by calling +1(267) 388-9828 or schedule your genetic counseling session to begin your journey toward accurate diagnosis and effective management of growth-related conditions.
