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Test Code AMLFA Adult Acute Myeloid Leukemia Panel, FISH, Varies


Ordering Guidance


This test is only performed on specimens from patients with acute myeloid leukemia (AML) who are age 31 years or older.

 

If acute promyelocytic leukemia is probable and expedited PML/RARA results are needed, order AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies. If PML::RARA fusion is identified in AMLFA, the laboratory will automatically expedite analysis. Results will not be provided until the complete panel testing is finalized. The laboratory is unable to provide preliminary results.

 

This test should NOT be used to screen for residual AML.

 

Minimal residual disease (MRD) monitoring in patients with AML known to have either t(15;17) with PML::RARA fusion, inv(16) or t(16;16) with CBFB::MYH11 fusion, t(8;21) with RUNX1::RUNX1T1 fusion, or t(9;22) with BCR::ABL1 fusion should be performed by quantitative reverse transcriptase polymerase chain reaction and not by fluorescence in situ hybridization (FISH) testing.

 

It is recommended that MRD monitoring in AML patients be performed by AML-MRD flow cytometry rather than FISH testing using individual FISH probe sets. This is particularly true for the deletion/monosomy probe sets (5, 7, 17) which have cutoffs that exceed 10% of nuclei.

 

If targeted AML FISH probes are preferred, order AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies and request specific probes for targeted abnormalities.

 

This test is intended for instances when the entire AML FISH panel is needed for an adult patient.

 

If this test is ordered on a patient aged 30 years or younger, this test will be canceled and automatically reordered by the laboratory as AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies.

 

If this test is ordered and the laboratory is informed that the patient is age 30 years or younger and is on a Children's Oncology Group protocol, this test will be canceled and automatically reordered by the laboratory as COGMF / Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies.

 

If either (or both) BALAF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies; or TALAF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies, is ordered concurrently with this test, the laboratory may cancel this test and automatically reorder as AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies with the following FISH probes: RUNX1T1/RUNX1, PML/RARA, MYH11/CBFB, GATA2/MECOM, DEK/NUP214, D5S630/EGFR1, D7Z1/D7S486, TP53/D17Z1, and NUP98 3'/5'. If an abnormality is identified that would result in reflex testing in this test, the same reflex testing will be performed in the AMLMF. This cancellation is necessary to avoid duplicate testing. The break-apart KMT2A probe set will still be performed as part of either the adult B-cell acute lymphoblastic leukemia (B-ALL) or T-ALL FISH panel.

 

For testing paraffin-embedded tissue samples from patients with AML/myeloid sarcoma, order MSTF / Myeloid Sarcoma, FISH, Tissue. If a paraffin-embedded tissue sample is submitted for this test, this test will be canceled and MSTF will be added and performed as the appropriate test.



Additional Testing Requirements


At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and this fluorescence in situ hybridization panel should be performed. If there is limited specimen available, only this test will be performed.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


1. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

2. A flow cytometry and/or a bone marrow pathology report should be submitted with each specimen. The laboratory will not reject testing if this information is not provided but appropriate testing and interpretation may be compromised or delayed.



Specimen Required


Submit only 1 of the following specimens:

 

Preferred

Specimen Type: Bone marrow

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (sodium heparin) or lavender top (EDTA)

Specimen Volume: 2 to 3 mL

Collection Instructions:

1. It is preferable to send the first aspirate from the bone marrow collection.

2. Invert several times to mix bone marrow.

3. Send bone marrow in original tube. Do not aliquot.

 

Acceptable

Specimen Type: Whole blood

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (sodium heparin) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood in original tube. Do not aliquot.


Useful For

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with acute myeloid leukemia (AML) in patients aged 31 and older using a laboratory-designated probe set algorithm

 

As an adjunct to conventional chromosome studies in patients with AML

 

Evaluating specimens in which chromosome studies are unsuccessful

 

This test should not be used to screen for residual AML

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for 3 probe sets (6 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex testing or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

 

This test is performed as panel testing only using the following analysis algorithm.

 

The initial diagnostic adult acute myeloid leukemia (AML) FISH panel includes testing for the following abnormalities using the FISH probes listed:

t(8;21)(q21.3;q22) or RUNX1::RUNX1T1 fusion, RUNX1T1/RUNX1 probe set

t(11q23;var) or KMT2A rearrangement, KMT2A break-apart probe set

t(15;17)(q24;q21) or PML::RARA fusion, PML/RARA probe set

inv(16) or t(16;16) or CBFB::MYH11 fusion, MYH11/CBFB probe set

 

If testing is ordered concurrently with a chromosomal study (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow; or CHRHB / Chromosome Analysis, Hematologic Disorders, Blood), secondary testing will not be performed. Appropriate secondary FISH probes will be recommended if the chromosome results are informative.

 

If a chromosome study is not ordered concurrently, the following secondary panel of FISH probes will be performed when the initial panel is negative or demonstrate nonclassical abnormalities:

inv(3) or t(3;3) or GATA2::MECOM fusion, GATA2/MECOM probe set

-5/5q-, D5S630/EGR1 probe set

t(6;9)(p22.3;q34) or DEK::NUP214 fusion, DEK/NUP214 probe set

-7/7q-, D7Z1/D7S486 probe set

t(9;22)(q34;q11.2) or BCR::ABL1 fusion, ABL1/BCR probe set

t(11p15.4;var) or NUP98 rearrangement, NUP98 break-apart probe set

-17/17p-, TP53/D17Z1 probe set

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

 

In the following situations, additional (reflex) testing may be performed at the laboratory's discretion and may be influenced by available karyotype results or other FISH testing.

 

When a KMT2A rearrangement is identified, 1 or more dual-fusion FISH (D-FISH) probe sets may be used in an attempt to identify the translocation partner for the following abnormalities:

t(4;11)(q21;q23) or KMT2A::AFF1 fusion, AFF1/KMT2A probe set

t(6;11)(q27;q23) or KMT2A::AFDN ;fusion, AFDN/KMT2A probe set

t(9;11)(p22;q23) or KMT2A::MLLT3 fusion, MLLT3/KMT2A probe set

t(10;11)(p12;q23) or KMT2A::MLLT10 fusion, MLLT10/KMT2A probe set

t(11;16)(q23;p13.3) or KMT2A::CREBBP fusion, KMT2A/CREBBP probe set

t(11;19)(q23;p13.1) or KMT2A::MLLT1 fusion, KMT2A/ELL probe set

t(11;19)(q23;p13.3) or KMT2A::ELL fusion, KMT2A/MLLT1 probe set

 

When an extra or atypical RARA signal is identified in the absence of PML::RARA fusion, the RARA break-apart probe set may be used to identify a potential variant translocation involving RARA, t(17;var)(q21;?).

When an extra CBFB signal is identified in the absence of CBFB::MYH11 fusion, the CBFB break-apart probe set may be used to evaluate for the presence or absence of a potential variant translocation involving CBFB, t(16;var)(q22;?).

 

When an extra RUNX1 signal is identified in the absence of RUNX1::RUNX1T1 fusion, the RUNX1 break-apart probe set may be used to evaluate for the presence or absence of a potential variant translocation involving RUNX1, t(21;var)(q22;?).

 

When an extra GATA2 signal is identified in the absence of GATA2::MECOM fusion, the PRDM16/GATA2 probe set may be used to identify a potential t(1;3)(p36;q21).

 

When an extra MECOM signal is identified in the absence of GATA2::MECOM fusion, the break-apart MECOM probe set may be used to identify a potential variant translocation involving MECOM, t(3;var)(q26.2;?).

  

When an extra ABL1 signal is identified in the absence of BCR::ABL1 fusion, the ABL1 break-apart probe set may be used to evaluate for the presence or absence of a potential variant translocation involving ABL1, t(9;var)(q34;?).

 

For more information see:

Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up

Acute Leukemias of Ambiguous Lineage Testing Algorithm

Acute Myeloid Leukemia: Testing Algorithm

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

Adult-AML panel, FISH

Specimen Type

Varies

Specimen Minimum Volume

Bone marrow: 1 mL; Whole blood: 2 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

88271x6, 88275x3, 88291x1-FISH Probe, Analysis, Interpretation; 3 probe sets

88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AMLFA Adult-AML panel, FISH 102101-3

 

Result ID Test Result Name Result LOINC Value
622381 Result Summary 50397-9
622382 Interpretation 69965-2
622383 Result Table 93356-4
622384 Result 62356-1
GC147 Reason for Referral 42349-1
GC148 Specimen 31208-2
622385 Source 31208-2
622386 Method 85069-3
622387 Additional Information 48767-8
622388 Disclaimer 62364-5
622389 Released By 18771-6