BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction NGS Genetic DNA Test
Comprehensive Genetic Diagnosis for Congenital Limb Abnormalities
The BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for congenital limb malformations. This specialized test focuses on the BHLHA9 gene, which plays a crucial role in embryonic limb development and digital formation. Syndactyly, characterized by fused fingers or toes, represents one of the most common congenital hand anomalies, affecting approximately 1 in 2,000-3,000 live births worldwide.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets mutations in the BHLHA9 gene that are associated with mesoaxial synostotic syndactyly with phalangeal reduction. This condition involves:
- Fusion of the middle fingers (mesoaxial syndactyly)
- Bony union between digits (synostosis)
- Reduced number or size of finger bones (phalangeal reduction)
- Potential involvement of multiple family members
- Autosomal dominant inheritance patterns
Who Should Consider This Genetic Testing
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Congenital fusion of fingers, particularly involving the middle digits
- Family history of syndactyly or limb malformations
- Suspected genetic syndromes affecting hand development
- Unexplained digital abnormalities in newborns or children
- Planning for surgical correction requiring genetic diagnosis
- Genetic counseling for family planning purposes
Significant Benefits of Early Genetic Diagnosis
Undergoing BHLHA9 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of limb abnormalities
- Treatment Planning: Guides surgical interventions and rehabilitation strategies
- Genetic Counseling: Provides inheritance risk assessment for family members
- Early Intervention: Enables timely medical and therapeutic management
- Psychological Support: Helps families understand and cope with genetic conditions
- Reproductive Planning: Informs future family planning decisions
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your BHLHA9 test results:
- Positive Result: Indicates presence of BHLHA9 gene mutation, confirming genetic diagnosis
- Negative Result: Suggests absence of tested mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires further evaluation and family studies
- Carrier Status: Important for genetic counseling and family risk assessment
All results include detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized genetic centers in:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Our network ensures convenient access to advanced genetic testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about congenital limb conditions affect your family’s future. Our expert genetic team is ready to provide comprehensive testing, accurate diagnosis, and personalized counseling. Early genetic identification can significantly improve treatment outcomes and family planning decisions.
Call us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our genetic specialists are available to answer your questions and guide you through the testing process.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing accessible and convenient for families across the United States.
