Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication
Also known as: BMF NGS
Use
This test is used to assess for inherited or germline DNA variants associated with bone marrow failure or a hereditary predisposition to myeloid neoplasms. It involves the sequencing and deletion/duplication analysis of multiple genes to identify pathogenic variants that can cause qualitative or quantitative defects in hematopoietic lineages, resulting in conditions such as cytopenias and hypocellular bone marrow. The panel includes genes related to hereditary bone marrow failure syndromes and hereditary predisposition to myeloid neoplasms, acknowledging the clinical overlap between these entities.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a diagnosis of bone marrow failure. The test only detects variants within coding regions and intron-exon boundaries of the targeted genes. Regulatory region variants and deep intronic variants will not be identified. Single exon deletions are detected with lower sensitivity. The test is not intended to detect low-level mosaic variants, gene conversion events, translocations, mitochondrial DNA mutations, or repeat expansions. The SBDS gene associated with Schwachman-Diamond syndrome is not included due to technical limitations.
Methodology
NGS (Other)
Biomarkers
LOINC Codes
- 62365-2 - Diagnostic imp Spec-Imp
- 31208-2 - Specimen source
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
Not provided
Container
2 T-25 flasks at 80 percent confluency filled with culture media
Collection Instructions
Backup cultures must be maintained at the client's institution until testing is complete.
Storage Instructions
Critical room temperature. Must be received within 48 hours of shipment.
Causes for Rejection
Grossly hemolyzed or frozen specimens; formalin fixed tissue, FFPE
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |
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