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Test Code AMLMF Acute Myeloid Leukemia (AML), Specified FISH, Varies


Ordering Guidance


This test is intended for instances when limited acute myeloid leukemia (AML) fluorescence in situ hybridization (FISH) probes are needed based on specific abnormalities or abnormalities identified in the diagnostic sample. The FISH probes to be analyzed must be specified on the ordering request. If targeted FISH probes are not included with this test order, test processing will be delayed and the test may be canceled and automatically reordered by the laboratory as either AMLFA / Adult Acute Myeloid Leukemia Panel, FISH, Varies or AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies depending on the age of the patient.

 

If only PML and RARA probes are requested or PML::RARA fusion is identified, the laboratory will automatically expedite testing. When only the PML/RARA probe set is ordered, the result will typically be reported the next business day.

 

Results will not be provided until testing is finalized. The laboratory is unable to provide preliminary results.

 

At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and a complete AML FISH panel (either AMLFA or AMLFP) should be performed.

 

If a complete AML FISH panel is preferred for an adult patient, order AMLFA / Adult Acute Myeloid Leukemia Panel, FISH, Varies.

 

If a complete AML FISH panel is preferred for a pediatric patient, order AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies.

 

 

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 FISH testing.

 

It is recommended that MRD monitoring in patients with AML 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 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.

 

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 a complete AMLFA / Adult Acute Myeloid Leukemia Panel, FISH, Varies or AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies should be performed, depending on patient's age. If there is limited specimen available, only fluorescence in situ hybridization testing will be performed.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


1. A list of targeted probes requested for analysis is required. Probes available for this test are listed in the Testing Algorithm section.

2. 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.

3. 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.


Secondary ID

614202

Useful For

Detecting recurrent common chromosome abnormalities associated with acute myeloid leukemia (AML) using client-specified probe set(s)

 

As an adjunct to conventional chromosome studies in patients with AML

 

Evaluating specimens in which chromosome studies are unsuccessful

 

Identifying and tracking known chromosome abnormalities in patients with AML and monitoring response to therapy

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex testing, if requested, 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 using client-specified FISH probes and is not intended as a panel test. Specific probes must be listed in the probe request field. Reflex probes can be performed when appropriate if specified in the order request field.

 

When specified, any of the following probes will be performed:

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

t(1;3)(p36;q21) or GATA2::PRDM16 fusion, request probe PRDM16/GATA2

t(3q26.2;var) or MECOM rearrangement, request probe MECOM break-apart

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

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

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

t(7;12)(q36;p13) or MNX1::ETV6 fusion, request probe MNX1/ETV6

t(8;16)(p11;p13) or KAT6A::CREBBP fusion, request probe KAT6A/CREBBP

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

t(21q22;var) or RUNX1 rearrangement, request probe RUNX1 break-apart

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

t(11p15;var) or NUP98 rearrangement, request probe NUP98 break-apart

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

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

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

t(9;11)(p21.3;q23) or KMT2A::MLLT3 fusion, request probe MLLT3/KMT2A

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

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

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

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

t(17q21;var) or RARA rearrangement, request probe RARA break-apart

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

t(16q22;var) or CBFB rearrangement, request probe CBFB break-apart

inv(16)(p13q24) or CBFA2T3::GLIS2 fusion, request probe CBFA2T3/GLIS2

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

 

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.

 

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

AML, Specified 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

88271x2, 88275x1, 88291x1- FISH Probe, Analysis, Interpretation; 1 probe set

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AMLMF AML, Specified FISH 102103-9

 

Result ID Test Result Name Result LOINC Value
614204 Result Summary 50397-9
614205 Interpretation 69965-2
614206 Result Table 93356-4
614207 Result 62356-1
GC097 Reason for Referral 42349-1
GC098 Probes Requested 78040-3
GC099 Specimen 31208-2
614208 Source 31208-2
614209 Method 85069-3
614210 Additional Information 48767-8
614211 Disclaimer 62364-5
614212 Released By 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
AMLMB Probe, Each Additional (AMLMF) No, (Bill Only) No

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.