PROS1 Gene Protein S Deficiency Autosomal Dominant NGS Genetic DNA Test
Understanding Protein S Deficiency and Genetic Testing
Protein S deficiency represents a significant hereditary thrombophilia condition characterized by an increased predisposition to abnormal blood clot formation. The PROS1 gene encodes Protein S, a vital natural anticoagulant that works in conjunction with activated Protein C to regulate the coagulation cascade. When mutations occur in the PROS1 gene, they disrupt the production or function of Protein S, creating an imbalance in the body’s clotting mechanisms that can lead to serious thrombotic events.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic test specifically analyzes the PROS1 gene to identify pathogenic variants responsible for hereditary Protein S deficiency. The test examines:
- Complete coding regions of the PROS1 gene
- Exon-intron boundaries for splice site mutations
- Autosomal dominant inheritance pattern mutations
- Both point mutations and small insertions/deletions
- Genetic variants affecting Protein S synthesis and function
Who Should Consider PROS1 Genetic Testing?
This genetic test is particularly recommended for individuals experiencing:
- Unexplained deep vein thrombosis (DVT) or pulmonary embolism
- Recurrent thrombotic events without clear precipitating factors
- Family history of Protein S deficiency or thrombophilia
- Multiple pregnancy losses or recurrent miscarriages
- Thrombosis at unusual sites (cerebral, mesenteric, portal veins)
- Thrombotic events at a young age (under 50 years)
- Planning pregnancy with personal or family history of clotting disorders
Clinical Symptoms and Risk Factors
Individuals with PROS1 gene mutations may experience various clinical manifestations including swelling, pain, and redness in extremities from DVT, chest pain and breathing difficulties from pulmonary embolism, or neurological symptoms from cerebral venous thrombosis. The autosomal dominant inheritance pattern means that affected individuals have a 50% chance of passing the mutation to each offspring.
Significant Benefits of Genetic Testing
- Personalized Risk Assessment: Determine your specific genetic predisposition to thrombotic events
- Informed Family Planning: Make educated decisions about pregnancy and genetic counseling
- Proactive Medical Management: Implement appropriate anticoagulant therapy when needed
- Lifestyle Guidance: Adjust activities and habits to minimize thrombosis risk
- Surgical Planning: Prepare adequately for procedures with increased thrombosis risk
- Family Member Screening: Identify at-risk relatives for early intervention
Understanding Your Test Results
Your genetic test report will provide comprehensive information about your PROS1 gene status:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the PROS1 gene, confirming hereditary Protein S deficiency. This result means you have an increased lifetime risk of thrombotic events and should work closely with your healthcare provider to develop an appropriate management plan, which may include anticoagulant therapy during high-risk situations.
Negative Result Interpretation
A negative result suggests no pathogenic mutations were detected in the PROS1 gene. However, this does not completely rule out thrombophilia, as other genetic or acquired factors may contribute to clotting disorders. Further evaluation with functional Protein S assays may be recommended.
Variant of Uncertain Significance (VUS)
In some cases, the test may identify genetic changes whose clinical significance is currently unknown. These variants require careful interpretation in the context of clinical symptoms and family history, with periodic re-evaluation as scientific knowledge advances.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PROS1 Gene Protein S Deficiency Autosomal Dominant 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 testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process understanding benefits and limitations
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results with strict quality control measures.
Take Control of Your Genetic Health Today
Understanding your genetic predisposition to Protein S deficiency can be life-changing. Early detection enables proactive management strategies that significantly reduce the risk of serious thrombotic complications. Our expert genetic counselors and medical professionals are available to guide you through the testing process and help interpret your results in the context of your personal health situation.
Ready to uncover your genetic risk for thrombophilia? Book your PROS1 Gene Protein S Deficiency NGS Genetic DNA Test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward personalized thrombophilia management and peace of mind.
