FGG Gene Afibrinogenemia Congenital NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bleeding Disorders
The FGG Gene Afibrinogenemia Congenital NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals with unexplained bleeding tendencies. This advanced test specifically targets mutations in the FGG gene, which encodes the gamma chain of fibrinogen – a crucial protein essential for proper blood clotting. Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of fibrinogen in the blood, leading to severe bleeding complications that can manifest from birth throughout life.
What Does This Test Measure and Detect?
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the FGG gene for pathogenic variants. The test specifically detects:
- Point mutations, deletions, and insertions in the FGG gene
- Nonsense and missense mutations affecting fibrinogen production
- Splice site variants that disrupt proper protein synthesis
- Frameshift mutations leading to premature stop codons
- Compound heterozygous mutations in affected individuals
The FGG gene, located on chromosome 4q31.3, contains 10 exons and encodes the gamma polypeptide chain of fibrinogen. Mutations in this gene prevent the proper assembly and secretion of functional fibrinogen molecules, resulting in the characteristic bleeding phenotype of congenital afibrinogenemia.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained prolonged bleeding from minor injuries or surgical procedures
- Spontaneous bleeding into joints, muscles, or internal organs
- Abnormal coagulation test results showing prolonged thrombin time
- Family history of bleeding disorders or consanguineous parents
- Newborns with umbilical stump bleeding or intracranial hemorrhage
- Women with heavy menstrual bleeding or postpartum hemorrhage
- Individuals with undetectable fibrinogen levels in blood tests
Clinical Benefits of Genetic Testing
Undergoing the FGG Gene Afibrinogenemia test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out congenital afibrinogenemia with high precision
- Personalized Treatment: Enables targeted fibrinogen replacement therapy
- Genetic Counseling: Provides essential information for family planning decisions
- Proactive Management: Allows for preventive measures before surgical procedures
- Carrier Detection: Identifies asymptomatic carriers within families
- Prenatal Diagnosis: Offers options for at-risk pregnancies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and hematologists:
- Positive Result: Identifies pathogenic mutations confirming congenital afibrinogenemia diagnosis
- Negative Result: No FGG gene mutations detected, suggesting other causes for bleeding symptoms
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All positive results include detailed guidance on management strategies, including fibrinogen concentrate administration, bleeding prevention measures, and emergency protocols.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of test implications and potential outcomes
- Informed consent for genetic testing
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 state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Health Today
Don’t let unexplained bleeding symptoms compromise your quality of life. The FGG Gene Afibrinogenemia Congenital NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Our team of hematologists and genetic specialists are ready to guide you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Take the first step toward understanding your genetic health and ensuring proper management of bleeding disorders.
