ADAMTSL2 Gene Geleophysic Dysplasia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Geleophysic Dysplasia
The ADAMTSL2 Gene Geleophysic Dysplasia Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal disorders. This advanced test specifically targets mutations in the ADAMTSL2 gene, which plays a crucial role in connective tissue development and function. Geleophysic dysplasia type 1 is an extremely rare autosomal recessive disorder characterized by distinctive facial features, short stature, and progressive joint limitations that significantly impact quality of life.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test precisely identifies pathogenic variants in the ADAMTSL2 gene, including:
- Point mutations and small insertions/deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Compound heterozygous mutations
- Novel genetic variants with clinical significance
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Short stature with disproportionate body proportions
- Characteristic “happy” facial appearance with full cheeks
- Progressive joint stiffness and contractures
- Thickened skin and limited finger mobility
- Cardiac abnormalities including valve disease
- Family history of skeletal dysplasia or connective tissue disorders
- Unexplained growth retardation in childhood
Clinical Benefits of ADAMTSL2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms geleophysic dysplasia type 1 with molecular precision
- Personalized Treatment: Guides appropriate medical management and interventions
- Family Planning: Assesses recurrence risks for future pregnancies
- Early Intervention: Enables proactive management of potential complications
- Genetic Counseling: Provides families with comprehensive understanding of inheritance patterns
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Confirms ADAMTSL2 gene mutation and geleophysic dysplasia diagnosis
- Negative Result: Suggests alternative diagnoses may need consideration
- Variant of Unknown Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located 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 genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our ADAMTSL2 Gene Geleophysic Dysplasia Type 1 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With results available in just 3-4 weeks and comprehensive genetic counseling included, you’ll receive the expert guidance necessary to navigate your genetic health journey.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and help you take the first step toward genetic clarity and personalized medical care.
