Diamond-Blackfan Anemia Panel
Use
The Diamond-Blackfan Anemia Panel is designed for individuals who have been clinically diagnosed or have a suspected diagnosis of Diamond-Blackfan anemia. It is also applicable for those showing signs of DBA-related bone marrow failure or hematologic malignancies, aiding in confirming the genetic basis and potentially guiding management and treatment strategies.
Special Instructions
For ordering the test, please use the online portal or fax the Test Requisition Form (TRF). Consider additional targeted family testing options if relevant. Various order options are available, such as Exome-Wide CNV Analysis and STAT testing, which come with specific cost implications.
Limitations
This panel may not detect all genetic variants associated with Diamond-Blackfan anemia. Variants outside the target regions or with low coverage may not be reliably detected. Interpretation of detected variants requires clinical correlation and understanding of genetic background. This test cannot determine the exact onset or progression of the conditions diagnosed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided