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Acute Myeloid Leukemia Fluorescence In Situ Hybridization (FISH) Analysis

FISH, AML, genetic, GAMLP, GAML2, RUNX1T1::RUNX1 [ETO::AML1] fusion for t(8;21), CBFß::MYH11 gene for inv(16)/t(16;16), MLL gene rearrangement for t(11q23;var), PML::RARA for t(15;17), RPN1::MECOM, for inv(3)/t(3;3), BCR::ABL1 t(9;22), NUP98

Limited AML Panel: CBFB::MYH11, p53, PML::RARA, MLL, NUP98 and BCR::ABL1

Expanded AML Panel: CBFB::MYH11, p53, PML::RARA, MLL, NUP98, BCR::ABL1, RUNX1T1::RUNX1, RPN1::MECOM

*Note:  The limited AML panel will be the default order unless the expanded panel is designated by the ordering physician

**A verbal STAT APL FISH result, if clinically indicated, will be made available to the ordering physician within 48 hours of specimen receipt for all new APL diagnoses. 

Test Codes

Please contact the Cytogenetics Laboratory if assistance with ordering in EPIC is needed.
FISH (no chromosomes): LAB5137, FISH (with chromosomes): LAB5203

Department

Cytogenetics

Specimen Collection Criteria

Collect: Peripheral blood (Minimum: 3.0 mL) or bone marrow aspirate (Minimum: 1.0 mL) in Dark Green-top Sodium Heparin tubes.

A copy of the requisition must be sent with the specimen. 

Physician Office/Draw Specimen Preparation

Do not freeze specimen. Maintain specimens at room temperature (20-26°C or 68-78.8°F) prior to courier pickup. For delays in transport (greater than 48 from the time of collection), refrigerate (2-8°C or 36-46°F) the specimen.

Preparation for Courier Transport

Transport: 5-7 mL peripheral blood or 1-2 mL bone marrow, at room temperature (20-26°C or 68-78.8°F) or refrigerated (2-8°C or 36-46°F). (Minimum: 3.0 mL blood or 1.0 mL bone marrow)

Rejection Criteria

Specimens arriving in the Laboratory 3 days or more following the original collection date.

Frozen or fixed specimens.

In-Lab Processing

Specimens are processed immediately upon receipt in the Laboratory.

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 48 hours
Refrigerated (2-8°C or 36-46°F): 96 hours
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Refrigerated (2-8°C or 36-46°F): 7 days. A backup cell pellet is maintained for three weeks after the case has been signed out.

Laboratory

Royal Oak Cytogenetics Laboratory

Performed

Monday – Friday, 8:00 am – 5:00 pm.
Results available within one week of receipt in the Laboratory.

Reference Range

Positive or negative for a neoplastic clone. An interpretative report will be provided.

Test Methodology

Fluorescence In Situ Hybridization (FISH) Analysis.

Interpretation

A positive FISH result indicates the presence of the chromosome abnormality. The presence of RUNX1T1::RUNX1 fusion, CBFß gene rearrangement, PML::RARA fusion, RPN1::MECOM rearrangement, NUP98 rearrangement or MLL gene rearrangement is diagnostic for their respective WHO AML classifications.

Clinical Utility

Acute myeloid leukemia (AML) is a hematopoietic neoplasm characterized by excessive accumulation of myeloid blasts (>20%) in bone marrow, peripheral blood, and other tissues. The identification of specific cytogenetic abnormalities is diagnostic for specific AML subtypes and can be powerful predictors of prognosis and response to therapy. Overall, cytogenetic abnormalities are identified in approximately 55% of adults at diagnosis, with a range of 50-80%; however, only a subset of these chromosome changes is associated with clinical, morphological, and immunophenotypic specificity for a particular AML subtype. These are included in the WHO classification scheme under AML with recurrent genetic abnormalities and include: AML with t(8;21)(q22;q22); AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); (RPN1/EVI1 [MECOM]); RUNX1T1::RUNX1, AML with inv(16)(p13q22) or t(16;16)(p13;q22);(CBFß::MYH11), acute promyelocytic leukemia [AML with t(15;17)(q22;q12); (PML::RARA) and variants], and AML with 11q23 (MLL) abnormalities. BCR::ABL1 gene rearrangement is evaluated if the AML panel is normal.

The following FISH probes detect myeloid-associated abnormalities and are available:

• RUNX1T1::RUNX1 fusion for t(8;21)
• RPN1/EVI1 (MECOM) fusion with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
• CBFß::MYH11 gene for inv(16)/t(16;16)
• MLL gene rearrangement for t(11q23;var)
• PML::RARA for t(15;17)
• BCR::ABL1 for t(9;22)
• NUP98 gene rearrangement

Guidelines for Cytogenetic/Molecular Follow-Up Testing of Hematopoietic Malignancy

CPT Codes

88271x9, 88275x6, 100-300 cells. (Limited Panel)

88271x13, 88275x8, 100-300 cells. (Expanded Panel)

Contacts

Last Updated

12/30/2022