The Comprehensive Hematologic Malignancy Sequencing Panel is designed to identify clinically relevant DNA mutations for the diagnosis, prognosis, and treatment of patients with acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, lymphoma and other hematologic malignancies. The appropriate panel should be selected. NovaSeq high throughput targeted sequencing technology is used to identify mutations within the following 221 genes. 
Comprehensive Hematologic Malignancy Sequencing Panel includes:

The Comprehensive Hematologic Malignancy Sequencing Panel is a next-generation sequencing (NGS) test performed on DNA extracted from blood or bone marrow aspirate to detect DNA mutations in the 221 targeted genes.

Target sequences are enriched using the capture method and sequenced on the NovaSeq 6000 sequencer (Illumina Inc.). This assay involves sequencing of the entire coding regions of the targeted genes, except for TERC.

Alternate methodologies may be used to detect specific DNA mutations in certain genes, such as FLT3, when definitive results for the genes cannot always be determined via NGS.

Variants which are thought to be clinically significant based on existing knowledge as well as variant of uncertain significance (VUS) of probable somatic origin will be reported.

Whole blood

Bone marrow

Extracted DNA

Whole blood – 4 mL

Bone marrow – 4 mL

Extracted DNA – 200ng

Whole blood – <1 mL, if sufficient DNA is extracted from the blood

Bone marrow – <1 mL, if sufficient DNA is extracted from the bone marrow

Extracted DNA – 100ng

Shared tubes, such as CBC tubes

Clotted specimen

Improperly labelled specimen

Broken specimen tube

Specimen older than 7 days