F12 Gene Factor XII Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Factor XII Deficiency
The F12 Gene Factor XII Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach to identifying genetic mutations responsible for Factor XII deficiency, a rare inherited bleeding disorder. This sophisticated test employs Next-Generation Sequencing (NGS) technology to comprehensively analyze the F12 gene, providing crucial insights into an individual’s coagulation profile and bleeding risk assessment.
What is Factor XII Deficiency?
Factor XII deficiency is an autosomal recessive bleeding disorder characterized by prolonged activated partial thromboplastin time (aPTT) without clinical bleeding symptoms in most cases. The F12 gene, located on chromosome 5, encodes coagulation factor XII, which plays a critical role in the intrinsic pathway of the coagulation cascade. Mutations in this gene can lead to reduced or absent factor XII activity, affecting blood clotting mechanisms.
What This Test Measures and Detects
Our advanced NGS genetic testing provides comprehensive analysis of:
- Complete sequencing of the F12 gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) affecting factor XII function
- Identification of missense, nonsense, and frameshift mutations
- Analysis of promoter regions and regulatory elements
- Assessment of genetic variants associated with thrombotic risk
Clinical Significance of Test Results
The test results provide definitive genetic confirmation of Factor XII deficiency, helping distinguish between homozygous and heterozygous states. This information is crucial for understanding inheritance patterns and assessing bleeding risks during medical procedures.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained prolonged aPTT results
- Family history of Factor XII deficiency
- Recurrent abnormal coagulation screening tests
- Planning for surgical procedures with bleeding risk concerns
- Unexplained bleeding tendencies despite normal platelet counts
- Consanguineous parents with bleeding disorder history
Specific Clinical Indications
Patients with hepatology, nephrology, or endocrinology disorders may particularly benefit from this testing, as coagulation abnormalities can complicate management of these conditions. The test is also valuable for individuals undergoing evaluation for unexplained coagulation abnormalities.
Benefits of Taking the F12 Gene Factor XII Deficiency Test
- Definitive Diagnosis: Provides conclusive genetic evidence of Factor XII deficiency
- Family Planning Guidance: Helps assess inheritance risks for future generations
- Surgical Safety: Enables proper preoperative planning and bleeding risk management
- Personalized Treatment: Guides appropriate management strategies based on genetic findings
- Early Intervention: Allows proactive monitoring and preventive care measures
- Genetic Counseling: Supports informed decision-making for affected families
Understanding Your Test Results
Normal Results
Normal results indicate no pathogenic variants detected in the F12 gene, suggesting typical factor XII function. However, clinical correlation with coagulation studies is always recommended.
Abnormal Results
Pathogenic variants identified may indicate:
- Homozygous mutations: Typically associated with severe Factor XII deficiency
- Heterozygous mutations: May cause mild to moderate deficiency states
- Compound heterozygous mutations: Variable clinical presentations
Clinical Interpretation
All results should be interpreted by qualified healthcare professionals in conjunction with clinical findings and laboratory coagulation studies. Genetic counseling is strongly recommended for comprehensive understanding of results and implications.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | F12 Gene Factor XII Deficiency 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 |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to bleeding disorders
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by bleeding disorders
- Previous coagulation test results if available
Nationwide Availability
GGC DNA has testing facilities conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Take Control of Your Health Today
Don’t let uncertainty about bleeding risks affect your quality of life. Our F12 Gene Factor XII Deficiency NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. With our special discounted price of $500 USD, comprehensive genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to assist you with personalized guidance and support throughout your testing journey.
Early detection through advanced genetic testing can make a significant difference in managing bleeding disorders and ensuring optimal health outcomes. Trust GGC DNA for accurate, reliable genetic testing you can depend on.
