HOXA13 Gene Hand-Foot-Uterus Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Developmental Disorders
The HOXA13 Gene Hand-Foot-Uterus Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for developmental disorders. This advanced test specifically targets the HOXA13 gene, which plays a critical role in embryonic development and patterning of limbs and reproductive organs. Using state-of-the-art Next-Generation Sequencing technology, our test provides unparalleled accuracy in detecting mutations associated with Hand-Foot-Uterus Syndrome, a rare genetic condition characterized by distinctive physical abnormalities.
What Does This Test Measure and Detect?
Our comprehensive NGS-based test analyzes the entire HOXA13 gene sequence to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Missense, nonsense, and frameshift mutations
- Regulatory region variations affecting gene expression
- Pathogenic variants linked to Hand-Foot-Uterus Syndrome
Clinical Significance of HOXA13 Mutations
The HOXA13 gene belongs to the homeobox gene family, which encodes transcription factors essential for proper embryonic development. Mutations in this gene disrupt normal limb bud formation and reproductive organ development during critical embryonic stages, leading to the characteristic features of Hand-Foot-Uterus Syndrome.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Congenital hand abnormalities including short thumbs, clinodactyly, or syndactyly
- Foot deformities such as short great toes or abnormal toe positioning
- Uterine malformations in females (bicornuate uterus, uterine septum)
- Family history of similar developmental abnormalities
- Unexplained infertility or recurrent pregnancy loss
- Multiple congenital anomalies involving limbs and reproductive system
- Suspected genetic syndromes with limb and reproductive involvement
Benefits of HOXA13 Genetic Testing
Comprehensive Diagnostic Advantages
- Accurate Diagnosis: Provides definitive molecular confirmation of Hand-Foot-Uterus Syndrome
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely medical and surgical management
- Genetic Counseling: Supports family members in understanding inheritance patterns
- Differential Diagnosis: Helps distinguish from other similar genetic conditions
- Prognostic Information: Provides insights into potential disease progression
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and medical geneticists:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the HOXA13 gene. This confirms the diagnosis of Hand-Foot-Uterus Syndrome and provides valuable information for:
- Confirming clinical diagnosis
- Guiding appropriate medical management
- Informing family members about inheritance risks
- Planning future reproductive options
Negative Result
A negative result suggests that no pathogenic mutations were detected in the HOXA13 gene. However, this does not completely rule out the possibility of Hand-Foot-Uterus Syndrome, as:
- Rare mutations in regulatory regions may not be detected
- Other genetic or environmental factors may be involved
- Clinical correlation with physical findings remains essential
Variant of Uncertain Significance (VUS)
Some results may identify genetic changes with unclear clinical significance. In such cases:
- Additional family studies may be recommended
- Ongoing research may provide future clarity
- Clinical correlation becomes particularly important
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | HOXA13 Gene Hand-Foot-Uterus 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements and Preparation
Essential Pre-Test Information
To ensure optimal test accuracy and interpretation, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart documenting family members affected with similar conditions
- Documentation of physical examination findings
- Relevant imaging studies (if available)
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations 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. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our HOXA13 Gene Hand-Foot-Uterus Syndrome NGS Genetic DNA Test provides the definitive answers you need for proper medical management and family planning. With our advanced NGS technology and expert genetic counseling support, you can make informed decisions about your health and future.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing options and schedule your appointment. Call us at +1(267) 388-9828 or book your test online through our secure patient portal. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take control of your genetic health today – schedule your HOXA13 genetic test and gain the clarity you deserve for informed medical decisions and family planning.
