Hereditary Myeloid Neoplasms Panel, Sequencing

Also known as: HMYE NGS

Clinical Use

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

Not provided.

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.

Test Details