Thrombocytopenia Panel - Expanded
Use
This test is intended for individuals with clinical or suspected diagnoses of inherited thrombocytopenia, as well as those with a family history of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). By identifying genetic mutations associated with these conditions, the test aids in confirming diagnoses, guiding treatment options, and informing familial risk. The panel includes a comprehensive analysis of 33 genes relevant to these conditions, providing insights into genetic predispositions and potential complications.
Special Instructions
This panel is based on next-generation sequencing (NGS) technology, coupled with copy number variant (CNV) analysis, to provide a detailed genetic profile. STAT testing options are available, with results typically delivered within 16 days if expedited. It's crucial to provide detailed clinical information for accurate interpretation and ordering must be done by a healthcare provider.
Limitations
This genetic test might not detect all mutations associated with thrombocytopenia or related conditions. Variants of uncertain significance may be identified, which could require further family studies for clarification. Technical limitations include the potential for false negatives or positives due to sequencing errors, sample quality issues, or incomplete genomic coverage. Exome or genome platforms used may differ in their sensitivity to detect certain types of mutations, and CNV calls are validated but may not detect all changes.
New York Approved
Methodology
NGS
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