RBM8A Gene Thrombocytopenia Absent Radius Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for TAR Syndrome Diagnosis
The RBM8A Gene Thrombocytopenia Absent Radius Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare congenital disorders. This advanced test utilizes next-generation sequencing technology to identify mutations in the RBM8A gene, which is responsible for Thrombocytopenia Absent Radius (TAR) syndrome. TAR syndrome is a rare genetic condition characterized by the absence of the radius bone in the forearm and significantly reduced platelet counts, leading to increased bleeding risk.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the RBM8A gene located on chromosome 1q21.1. The test identifies:
- Point mutations in the RBM8A gene coding regions
- Deletions and duplications affecting gene function
- Specific genetic variants associated with TAR syndrome
- Inheritance patterns through family genetic analysis
- Risk assessment for future generations
The test employs state-of-the-art NGS technology that provides high-resolution genetic mapping, ensuring accurate detection of even subtle genetic variations that might be missed by conventional testing methods.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Congenital absence or underdevelopment of the radius bone
- Persistent thrombocytopenia (low platelet count) from birth
- Family history of TAR syndrome or related congenital anomalies
- Unexplained bleeding tendencies in infancy or childhood
- Multiple congenital abnormalities involving limbs and blood system
- Planning for pregnancy with family history of genetic disorders
Clinical Benefits of Genetic Testing
Undergoing the RBM8A genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms TAR syndrome diagnosis with genetic evidence
- Family Planning: Enables informed reproductive decisions
- Personalized Treatment: Guides appropriate medical management strategies
- Prognostic Information: Helps predict disease progression and complications
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Early Intervention: Facilitates timely medical interventions and monitoring
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our genetic counseling team:
- Positive Result: Indicates presence of RBM8A gene mutation confirming TAR syndrome diagnosis
- Negative Result: Suggests absence of detectable RBM8A mutations, though clinical correlation is essential
- Variant of Unknown Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
Our genetic counselors will provide detailed interpretation of your results, discussing inheritance patterns, recurrence risks, and appropriate next steps for medical management.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | RBM8A Gene Thrombocytopenia Absent Radius Syndrome 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 |
Nationwide Testing Availability
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, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Understanding of test implications and potential outcomes
- Informed consent for genetic testing
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our RBM8A Gene Thrombocytopenia Absent Radius Syndrome NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic diagnostics.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward genetic clarity and personalized medical care.
Our team of genetic specialists is ready to guide you through the testing process, from initial consultation to result interpretation and beyond. Book your appointment now and gain the genetic insights necessary for optimal health management.
