Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene
Use
This test is designed for individuals who have clinical or suspected diagnosis of Thrombocytopenia Absent Radius (TAR) syndrome, those with a known 1q21.1 deletion who need RBM8A sequencing to confirm diagnosis, and reproductive partners of individuals with a known pathogenic variant in the RBM8A gene. The test provides genetic confirmation for TAR syndrome, assisting in diagnosis and informing reproductive risk assessment.
Special Instructions
Not provided.
Limitations
This test may not detect all genetic variations responsible for TAR syndrome, especially if the causative variant is located in a part of the gene not covered by Sanger sequencing or if an atypical mutation is not included in the test design. Results will be interpreted based on the quality of clinical information provided, and detailed clinical notes improve variant interpretation.
New York Approved
Methodology
Sanger
Biomarkers
RBM8A
Gene
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided