DCAF17 Gene Hypogonadism Alopecia Diabetes Mellitus Mental Retardation and Extrapyramidal Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Complex Syndromic Conditions
The DCAF17 Gene NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for identifying rare genetic disorders characterized by multiple systemic manifestations. This advanced genetic test specifically targets mutations in the DCAF17 gene, which plays a crucial role in cellular function and development. Understanding the genetic basis of this complex syndrome is essential for accurate diagnosis, appropriate medical management, and informed family planning decisions.
What Does the DCAF17 Gene Test Detect?
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the DCAF17 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the DCAF17 gene
- Pathogenic variants associated with Woodhouse-Sakati syndrome
- Genetic markers linked to endocrine dysfunction and neurological impairment
- Inheritance patterns for family risk assessment
Clinical Significance of DCAF17 Gene Mutations
Mutations in the DCAF17 gene are responsible for Woodhouse-Sakati syndrome, a rare autosomal recessive disorder characterized by a distinctive combination of endocrine abnormalities, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal symptoms. The DCAF17 protein functions as a substrate receptor for the CUL4-DDB1 ubiquitin ligase complex, playing vital roles in cellular regulation and development.
Who Should Consider This Genetic Test?
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Progressive alopecia (hair loss) beginning in childhood or adolescence
- Hypogonadism with delayed or absent puberty
- Diabetes mellitus developing at an early age
- Intellectual disability or developmental delays
- Extrapyramidal symptoms including dystonia or movement disorders
- Family history of similar symptoms or consanguineous parents
- Unexplained combination of endocrine and neurological symptoms
Early Detection and Intervention Benefits
Early genetic diagnosis enables proactive management of associated conditions, including hormone replacement therapy for hypogonadism, diabetes management strategies, and appropriate educational support for cognitive challenges. Genetic counseling can provide valuable insights for family planning and recurrence risk assessment.
Key Benefits of DCAF17 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of Woodhouse-Sakati syndrome
- Personalized Treatment: Enables targeted management of specific symptoms and complications
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Proactive Monitoring: Facilitates early intervention for diabetes and endocrine disorders
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for patients and families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your DCAF17 gene test results:
- Positive Result: Confirms the presence of pathogenic DCAF17 mutations, establishing a definitive diagnosis of Woodhouse-Sakati syndrome
- Negative Result: Indicates no detectable mutations in the DCAF17 gene, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Pediatrics, Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements
Before undergoing the DCAF17 Gene Test, patients should provide:
- Complete clinical history documenting symptoms and progression
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar conditions
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about complex genetic conditions affect your quality of life. Our DCAF17 Gene NGS Genetic DNA Test provides the clarity and answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can significantly impact treatment outcomes and quality of life. Take the first step toward definitive answers and personalized care by contacting our genetic counseling team today.
