Hereditary Myeloid Neoplasms Panel, Sequencing
Also known as: HMYE NGS
Use
The Hereditary Myeloid Neoplasms Panel is used to assess for inherited or germline DNA variants associated with myeloid neoplasms that may predispose individuals to these conditions. It is not intended to detect somatic variants. Myeloid neoplasms and malignancies that occur sporadically due to somatic mutations may not be assessed with this test. It is recommended for patients who present younger, have multiple first-degree relatives with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML), and those with a family history of physical findings related to known cancer predisposition syndromes.
Special Instructions
Testing is not New York state approved. Specimens from New York clients will be sent to a New York state-approved laboratory. Informed consent is required for genetic testing for NY patients, along with a Hereditary Myeloid Neoplasms And Bone Marrow Failure Patient History Form. Cultured skin fibroblast backup cultures must be maintained at the client's institution until testing is complete.
Limitations
This test detects variants within the coding regions and intron-exon boundaries of targeted genes. Regulatory region variants and deep intronic variants will not be identified unless specifically targeted. The test may not detect deletions/duplications/insertions of any size not designed for or below sequencing sensitivity. Diagnostic errors may occur due to rare sequence variations. Variants may not be identified in the presence of pseudogenes, repetitive, or homologous regions. The assay cannot definitively determine germline or somatic origin of detected variants when performed on blood or tissues contaminated by malignant cells. It may not detect low-level mosaic or somatic variants from disease-relevant tissues.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2
- 35474-6
Result Turnaround Time
14-35 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Container
2 T-25 flasks
Collection Instructions
Fill flasks with culture media. Backup cultures must be maintained at the client's institution until testing is complete.
Causes for Rejection
Formalin fixed tissue, frozen fibroblasts
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |