FAM58A Gene Toe Syndactyly Telecanthus and Anogenital and Renal Malformations NGS Genetic DNA Test
Comprehensive Genetic Analysis for Complex Congenital Disorders
The FAM58A Gene NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare congenital conditions. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the FAM58A gene, which plays a critical role in embryonic development and tissue formation. When mutations occur in this gene, they can lead to a constellation of physical abnormalities affecting multiple body systems.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets:
- FAM58A Gene Mutations: Identifies pathogenic variants, including point mutations, deletions, and insertions within the FAM58A gene
- Inheritance Patterns: Determines whether the condition follows autosomal dominant or other inheritance patterns
- Variant Classification: Categorizes genetic changes as benign, likely benign, uncertain significance, likely pathogenic, or pathogenic
- Disease-Causing Variants: Pinpoints specific mutations responsible for the clinical presentation
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Toe Syndactyly: Fusion or webbing between toes, typically affecting the second and third toes
- Telecanthus: Increased distance between the inner corners of the eyes without true hypertelorism
- Anogenital Malformations: Abnormal development of anal and genital structures
- Renal Abnormalities: Kidney malformations or functional impairments
- Family History: Individuals with relatives diagnosed with similar congenital anomalies
- Unexplained Congenital Syndromes: Patients with multiple congenital anomalies without clear diagnosis
Key Benefits of FAM58A Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of suspected genetic conditions
- Early Intervention: Enables timely medical and surgical management strategies
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of a pathogenic FAM58A mutation, confirming the genetic diagnosis
- Negative Result: Suggests no disease-causing variants were detected in the FAM58A gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our comprehensive FAM58A genetic testing provides the answers you need for informed medical decisions and peace of mind. Contact our genetic specialists today to schedule your consultation and testing.
Call or WhatsApp: +1(267) 388-9828 to book your FAM58A Gene NGS Genetic DNA Test and begin your journey toward genetic clarity and personalized medical care.
