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AML Panel by FISH : 1001103
Test CodeMDFCPCAMLP or 1001103
Alias/See Also
Acute Myeloid Leukemia, BCR-ABL1, Inv(16), t(16;16), RUNX1/RUNX1T1, AML1/ETO, t(8;21), KMT2A, TP53 deletion, P53 deletion, MLL, 17p, t(9;22), CBFB, CBFB-MYH11, t(15;17)
CPT Codes
88271x12, 88275x6
Includes
FISH probes targeting RUNX1T1-RUNX1 (ETO-AML1), t(8;21); BCR-ABL1, t(9;22); KMT2A (MLL) (11q23); PML-RARA, t(15;17); CBFB-MYH11, inv(16)/t(16;16); TP53 (17p13)
Note: STAT handling for the PML-RARA component is available only by request. Please include a note STAT for PML-RARA, MD contact name, and phone number to receive preliminary STAT results.
Note: STAT handling for the PML-RARA component is available only by request. Please include a note STAT for PML-RARA, MD contact name, and phone number to receive preliminary STAT results.
Instructions
5 mL whole blood or 3 mL bone marrow collected in a sodium heparin (green-top) tube
Minimum Volume: 3 mL whole blood • 1 mL bone marrow
Clinical history and reason for referral are required with test order. Prior therapy and bone marrow transplant history should be provided with test order.
Minimum Volume: 3 mL whole blood • 1 mL bone marrow
Clinical history and reason for referral are required with test order. Prior therapy and bone marrow transplant history should be provided with test order.
Transport Container
Blood or Bone Marrow: Do not centrifuge.
Transport Temperature
Room temperature
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. **Do not reject**
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. **Do not reject**
Specimen Stability
Blood and Bone Marrow: Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Methodology
Fluorescence in situ hybridization (FISH)
Setup Schedule
Sunday - Saturday
Report Available
Up to 7 days
Limitations
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Reference Range
See Laboratory Report
Clinical Significance
Acute Myeloid Leukemia (AML) is classified into several subtypes based on recurrent chromosomal translocations and inversions. The most common are rearrangements of RUNX1T1::RUNX1[t(8;21)], BCR::ABL1 [t(9;22)], KMT2A (MLL)(11q23), PML::RARA [t(15;17)] and CBFB::MYH11 [inv(16)/t(16;16)]. Each of these structural chromosome rearrangements creates a fusion gene encoding a chimeric protein that aids in leukemogenesis. In addition,the deletion of TP53 tumor suppressor gene is also noted as a recurrent abnormality in AML.
As per current WHO specifications, specific abnormalities of CBFB::MYH11, RUNX1T1::RUNX1 and PML::RARA are diagnostic of AML and also provide prognostic information. BCR::ABL1 and KMT2A (MLL) gene rearrangements and loss of TP53 tumor suppressor gene in AML are prognostic in value. There are other recurrent cytogenetic abnormalities included in the WHO category, however, only most noted abnormalities are included in the AML panel. Typically, conventional cytogenetics is the gold standard for the identification of the recurrent chromosome abnormalities in AML. However, some of the more subtle rearrangements are below the resolution and can be missed by this method, such as KMT2A rearrangements and TP53 deletions. Additionally, cytogenetic studies require setting up 24-hour and 48-hour cell cultures before analysis can be performed. Fluorescence In-Situ Hybridization (FISH) is a molecular cytogenetic technique used in the identification of microdeletions, aneuploidies, marker chromosomes, and translocations on either metaphase cells or interphase nuclei from patient samples with acquired abnormalities (eg, hematologic disorders). Given the medical necessity of rapid diagnosis of an acute leukemia case, FISH analysis can be performed on a direct harvest of cells from the specimen and results are typically available in less than 24 hours. Therefore, running a rapid AML panel targeting most noted abnormalities aids in timely diagnosis of acute leukemia cases.
As per current WHO specifications, specific abnormalities of CBFB::MYH11, RUNX1T1::RUNX1 and PML::RARA are diagnostic of AML and also provide prognostic information. BCR::ABL1 and KMT2A (MLL) gene rearrangements and loss of TP53 tumor suppressor gene in AML are prognostic in value. There are other recurrent cytogenetic abnormalities included in the WHO category, however, only most noted abnormalities are included in the AML panel. Typically, conventional cytogenetics is the gold standard for the identification of the recurrent chromosome abnormalities in AML. However, some of the more subtle rearrangements are below the resolution and can be missed by this method, such as KMT2A rearrangements and TP53 deletions. Additionally, cytogenetic studies require setting up 24-hour and 48-hour cell cultures before analysis can be performed. Fluorescence In-Situ Hybridization (FISH) is a molecular cytogenetic technique used in the identification of microdeletions, aneuploidies, marker chromosomes, and translocations on either metaphase cells or interphase nuclei from patient samples with acquired abnormalities (eg, hematologic disorders). Given the medical necessity of rapid diagnosis of an acute leukemia case, FISH analysis can be performed on a direct harvest of cells from the specimen and results are typically available in less than 24 hours. Therefore, running a rapid AML panel targeting most noted abnormalities aids in timely diagnosis of acute leukemia cases.
Performing Laboratory
med fusion
