CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Limb Development Disorders
The CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with limb malformation syndromes. This specialized test focuses on the CHSY1 gene, which plays a critical role in skeletal development and limb formation during embryonic growth. By utilizing advanced Next-Generation Sequencing technology, our test provides unparalleled accuracy in detecting pathogenic variants that cause Temtamy preaxial brachydactyly syndrome.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the CHSY1 gene to identify:
- Pathogenic mutations in the CHSY1 gene associated with Temtamy preaxial brachydactyly syndrome
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the CHSY1 gene region
- Autosomal recessive inheritance patterns characteristic of this condition
- Genetic markers for preaxial brachydactyly and associated skeletal abnormalities
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Clinical features of brachydactyly affecting thumbs and great toes
- Family history of limb malformations or skeletal dysplasias
- Unexplained short stature with disproportionate limb involvement
- Children with developmental delays and characteristic facial features
- Couples with family history seeking preconception genetic counseling
- Patients with suspected genetic syndromes involving limb abnormalities
Key Benefits of CHSY1 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Temtamy preaxial brachydactyly syndrome with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Personalized Medical Management: Guides appropriate orthopedic and developmental interventions
- Early Intervention: Facilitates timely therapeutic approaches for optimal outcomes
- Genetic Counseling Support: Provides comprehensive understanding of inheritance patterns
- Peace of Mind: Reduces diagnostic uncertainty and enables proactive healthcare planning
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic CHSY1 gene mutations, confirming diagnosis and enabling targeted management
- Negative Result: Suggests absence of detectable CHSY1 mutations, though other genetic causes may need consideration
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome 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 |
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Informed consent process ensuring complete understanding
Nationwide Accessibility
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized CHSY1 genetic testing provides the answers you need for informed healthcare decisions. Our team of genetic counselors and medical specialists 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 your CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome NGS Genetic DNA Test. Take control of your genetic health with our comprehensive testing services.
