RBM10 Gene TARP Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for TARP Syndrome Diagnosis
The RBM10 Gene TARP Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RBM10 gene, which are responsible for TARP syndrome—a rare genetic disorder characterized by a distinct constellation of congenital anomalies. This sophisticated genetic testing utilizes next-generation sequencing technology to provide comprehensive analysis of the RBM10 gene with exceptional accuracy and reliability.
What is TARP Syndrome?
TARP syndrome is an acronym for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. This rare X-linked genetic condition primarily affects males and results from mutations in the RBM10 gene located on the X chromosome. The disorder presents with multiple congenital abnormalities that can significantly impact quality of life and require specialized medical management from birth.
What Does This Test Measure and Detect?
Our advanced NGS-based genetic test specifically targets and analyzes the RBM10 gene to identify pathogenic variants associated with TARP syndrome. The test provides comprehensive coverage of:
- Complete sequencing of the RBM10 gene coding regions
- Detection of point mutations, small insertions, and deletions
- Identification of splice site variants affecting gene function
- Analysis of known pathogenic variants with established clinical significance
- Assessment of novel variants through sophisticated bioinformatics analysis
The test achieves 99% analytical sensitivity and specificity, ensuring reliable results for clinical decision-making.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following clinical features:
- Newborns or infants with talipes equinovarus (clubfoot)
- Patients diagnosed with atrial septal defects or other congenital heart abnormalities
- Individuals exhibiting Robin sequence characteristics (micrognathia, glossoptosis, cleft palate)
- Presence of persistent left superior vena cava identified through cardiac imaging
- Family history of TARP syndrome or related congenital anomalies
- Unexplained multiple congenital abnormalities in male infants
- Suspected X-linked inheritance pattern of congenital disorders
Special Considerations
Given the X-linked inheritance pattern, carrier testing for female relatives of affected males may also be considered. Genetic counseling is strongly recommended before testing to discuss implications for family planning and recurrence risks.
Benefits of Taking the RBM10 Gene TARP Syndrome Test
Clinical Advantages
- Accurate Diagnosis: Provides definitive molecular confirmation of TARP syndrome, eliminating diagnostic uncertainty
- Early Intervention: Enables timely implementation of appropriate medical and surgical interventions
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decision-making
- Personalized Management: Facilitates development of tailored treatment plans based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to expanding knowledge about TARP syndrome and RBM10 gene function
Understanding Your Test Results
Interpretation Guidelines
Your test results will be carefully interpreted by our team of board-certified geneticists and molecular pathologists. The report will include:
- Positive Result: Identification of a pathogenic variant in the RBM10 gene confirms the diagnosis of TARP syndrome. This result provides definitive molecular evidence supporting clinical observations.
- Negative Result: No pathogenic variants detected in the RBM10 gene. This significantly reduces the likelihood of TARP syndrome, though clinical correlation remains essential.
- Variant of Uncertain Significance (VUS): Identification of a genetic change with unknown clinical impact. Additional family studies or functional analyses may be recommended.
Clinical Implications
A positive result enables healthcare providers to implement comprehensive management strategies addressing all aspects of TARP syndrome, including orthopedic interventions for talipes, cardiac monitoring and treatment, craniofacial management, and ongoing developmental support.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | RBM10 Gene TARP Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatric Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend the following pre-test preparations:
- Complete clinical history documentation of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of family members affected by or at risk for TARP syndrome
- Discussion of test implications, benefits, and limitations with a qualified genetic counselor
- Informed consent process addressing potential psychological and familial impacts
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection facilities ensures accessible testing options regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate care. Our RBM10 Gene TARP Syndrome NGS Genetic DNA Test provides the definitive answers needed for effective medical management and family planning decisions. With our special discounted price of only $500 USD and comprehensive genetic analysis, you can access world-class diagnostic capabilities without financial burden.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and arrange testing. Our dedicated genetic specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
Early diagnosis through advanced genetic testing can significantly improve outcomes for individuals with TARP syndrome. Take control of your genetic health journey with confidence and precision.
