TPM2 Gene Arthrogryposis Distal Type 1A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Distal Arthrogryposis
The TPM2 Gene Arthrogryposis Distal Type 1A NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by congenital joint contractures. This sophisticated next-generation sequencing test specifically targets mutations in the TPM2 (tropomyosin 2) gene, which plays a critical role in muscle contraction and development. Distal arthrogryposis type 1A is a rare genetic disorder characterized by multiple congenital contractures primarily affecting the hands and feet, and early genetic diagnosis is essential for proper management and treatment planning.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test precisely identifies pathogenic variants in the TPM2 gene that are responsible for distal arthrogryposis type 1A. The test examines:
- Point mutations affecting tropomyosin protein structure
- Missense mutations disrupting muscle fiber function
- Genetic variants impacting skeletal muscle development
- Inheritance patterns for family genetic counseling
- Specific TPM2 gene regions associated with contracture formation
Who Should Consider TPM2 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Congenital joint contractures in hands and feet
- Family history of distal arthrogryposis
- Unexplained muscle weakness in infancy
- Multiple congenital anomalies involving limbs
- Planning pregnancy with family history of skeletal disorders
- Diagnostic confirmation for suspected genetic muscle conditions
Significant Benefits of Genetic Testing
Undergoing TPM2 genetic testing provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out distal arthrogryposis type 1A
- Treatment Guidance: Informs appropriate therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables timely management strategies
- Peace of Mind: Reduces diagnostic uncertainty for families
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your TPM2 test results:
- Positive Result: Indicates presence of pathogenic TPM2 mutation; confirms diagnosis of distal arthrogryposis type 1A
- Negative Result: Suggests TPM2 mutations are not the cause of symptoms; may require additional genetic testing
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact; requires ongoing monitoring
- Carrier Status: Determines inheritance risk for future generations
All results include detailed genetic counseling recommendations and follow-up care guidance.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TPM2 Gene Arthrogryposis Distal Type 1A 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) |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide the answers you need. Schedule your TPM2 genetic test today and take control of your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your comprehensive genetic analysis. Our team is available to answer your questions, discuss insurance coverage options, and help you understand the testing process from start to finish.
