Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion
Use
This test is designed for individuals who exhibit features indicative of Thrombocytopenia Absent Radius (TAR) syndrome or have a clinical or suspected diagnosis. It is also suitable for individuals with a previously identified pathogenic RBM8A variant requiring further deletion/duplication testing. Additionally, it may be considered for reproductive partners of individuals carrying a known pathogenic RBM8A variant to understand potential risks.
Special Instructions
Not provided.
Limitations
The test is designed to detect large genomic copy number imbalances and specific deletions or duplications at the 1q21.1 locus. It does not detect balanced chromosomal rearrangements, low-level mosaicism, point mutations, or indels. Regions not covered by the microarray, such as certain repeat sequences, will also not be assessed. Standard limitations of microarray technology apply.
New York Approved
Methodology
Chromosomal / Cytogenetics (CMA)
Biomarkers
RBM8A
Gene
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided