HOXD13 Gene Brachydactyly Type E1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Abnormalities
The HOXD13 Gene Brachydactyly Type E1 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in medical genetics, specifically designed to identify mutations in the HOXD13 gene that cause brachydactyly type E1. This condition belongs to a group of inherited disorders characterized by abnormal shortening of the fingers and toes (brachydactyly), with type E1 presenting unique skeletal features that require precise genetic confirmation for accurate diagnosis and management.
What Does This Test Measure and Detect?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the HOXD13 gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the HOXD13 gene
- Genetic variations associated with brachydactyly type E1
- Inheritance patterns of the condition within families
- Specific nucleotide changes that disrupt normal skeletal development
Scientific Basis of HOXD13 Gene Function
The HOXD13 gene plays a crucial role in embryonic development, particularly in limb formation and skeletal patterning. This gene belongs to the homeobox gene family, which regulates the development of body structures during embryonic growth. Mutations in HOXD13 disrupt normal protein function, leading to improper bone development in the hands and feet, resulting in the characteristic shortened digits seen in brachydactyly type E1.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with specific clinical features or family history:
- Individuals with unexplained shortening of fingers and/or toes
- Patients with family history of brachydactyly or skeletal abnormalities
- Children showing developmental abnormalities in hand or foot structure
- Individuals planning pregnancy with known family history of skeletal disorders
- Patients requiring differential diagnosis from other brachydactyly types
- Those with associated features like short stature or other skeletal anomalies
Clinical Symptoms and Indications
Common clinical presentations that warrant HOXD13 genetic testing include:
- Noticeably shortened metacarpal and metatarsal bones
- Abnormal finger and toe proportions
- Reduced range of motion in hands and feet
- Family history of similar skeletal features
- Associated skeletal abnormalities beyond digital shortening
Benefits of HOXD13 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms brachydactyly type E1 and distinguishes it from other similar conditions
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely management and treatment planning
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Medical Management: Guides appropriate orthopedic and rehabilitation approaches
- Psychological Relief: Reduces uncertainty and provides clarity about the condition
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and provided with comprehensive explanations:
Possible Result Interpretations
- Positive Result: Identification of a pathogenic mutation in HOXD13 gene confirms diagnosis of brachydactyly type E1
- Negative Result: No mutation detected suggests other causes for skeletal abnormalities should be investigated
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals who carry the mutation but may not show symptoms
Post-Test Guidance
Following your test results, our genetic counseling team will provide:
- Detailed explanation of genetic findings and their implications
- Family risk assessment and inheritance pattern analysis
- Recommendations for medical management and specialist referrals
- Reproductive options and prenatal testing information
- Psychological support and resources for coping with genetic conditions
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HOXD13 Gene Brachydactyly Type E1 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) Technology |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements and Preparation
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of family members affected with skeletal abnormalities
- Documentation of physical examination findings
- Informed consent for genetic testing
Nationwide Testing Availability
We have conveniently located testing facilities across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities nationwide. Our network of certified genetic counselors and medical professionals ensures you receive consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal abnormalities affect your quality of life. Our HOXD13 Gene Brachydactyly Type E1 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through every step of the genetic testing process and help you understand your results with compassion and clinical excellence.
