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Test ID MPAML MatePair, Acute Myeloid Leukemia (AML) Panel

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

Provide a reason for referral 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:


Specimen Type: Bone marrow

Container/Tube: Green top (sodium heparin)

Specimen Volume: 1-2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. If sodium heparin is not available, EDTA is acceptable.


Specimen Type: Whole blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 7-10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. If sodium heparin is not available, EDTA is acceptable. 


New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

Secondary ID


Useful For

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with acute myeloid leukemia or myelodysplasia or other myeloid malignancies


Evaluating specimens when standard cytogenetic or FISH analysis is unsuccessful


Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods such as conventional chromosome and FISH studies


Providing important diagnostic, prognostic, and therapeutic information critical to proper patient management

Genetics Test Information

This assay detects targeted chromosome abnormalities observed in the blood and bone marrow of patients with acute myeloid leukemia.

Method Name

Mate-Pair Whole Genome Sequencing

Reporting Name

MatePair, AML Panel

Specimen Type


Specimen Minimum Volume

Bone Marrow: 1 mL
Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)

Reject Due To

No specimen should be rejected.

Clinical Information

Acute myeloid leukemia (AML) is one of the most common adult leukemias, with almost 10,000 new cases diagnosed per year. AML also comprises 15% of pediatric acute leukemia and accounts for the majority of infant (<1 year old) leukemia. Several subtypes of AML have been recognized based on the cell morphology and myeloid lineage involved.


In addition to morphology, several recurrent chromosomal abnormalities have been linked to specific subtypes of AML. The most common chromosome abnormalities associated with AML include t(8;21), t(15;17), inv(16), +8, t(6;9), t(8;16), t(1;22), t(9;22), t(3;5), and abnormalities of the KMT2A (MLL) gene at 11q23. The most common genes juxtaposed with KMT2A (MLL) through translocation events in AML include AFF1 t(4;11), MLLT4 t(6;11), MLLT3 t (9;11), MLLT10 t(10;11), CREBBP t(11;16), ELL t(11;19p13.1), and MLLT1 t(11;19p13.3).


AML can also evolve from myelodysplasia (MDS). Thus, the common chromosome abnormalities associated with MDS can also be identified in AML, which include: inv(3), -5/5q-, -7/7q-, +8, 13q-, 17p-, 20q-, t(1;3), and t(3;21). In combination, the multiple recurrent chromosome abnormalities identified in patients with AML are observed in approximately 60% of diagnostic AML cases.


Conventional chromosome analysis is the gold standard for identification of the common, recurrent chromosome abnormalities in AML; however, some of the subtle rearrangements can be missed (eg, inv[16] and KMT2A [MLL] abnormalities). FISH analysis of nonproliferating (interphase) cells can be used to detect the common chromosome abnormalities observed in patients with AML, however, only a few KMT2A (MLL) gene partners are detected. The abnormalities have diagnostic and prognostic relevance and this testing can also be used to track response to therapy.


Mate-pair sequencing (MPS) is a next-generation sequencing technology that can aid in the further characterization of chromosome abnormalities by sequencing the entire genome and bioinformatically mapping short fragments of the genome to create a structural map of the genome. This technique enables the mapping of chromosome rearrangements to a resolution of approximately 2 kilobases or less, which allows for determination of genes at or near the breakpoints. MPS, similar to FISH analysis, can also be used on nonproliferating cells to detect common chromosome abnormalities observed in patients with AML. In addition, MPS is able to detect all gene partners for all the genes included on the panel, for example KMT2A (MLL) gene partners.

Reference Values

An interpretive report will be provided.


The interpretation describes the common chromosome abnormalities observed in patients with acute myeloid leukemia (AML) and the abnormalities have diagnostic and prognostic relevance. Mate-pair sequencing (MPS) is also able to further characterize previously identified acquired abnormalities. When possible the interpretation will state how the finding might be associated with the hematologic process and any potential information on diagnosis, prognosis, and treatment options given the finding.


The continual discovery of novel structural rearrangements and published clinical reports means that the interpretation of any finding may evolve with increased scientific understanding.


Although the presence of a clonal abnormality usually indicates a neoplasia, in some situations it may reflect a benign or constitutional genetic change. If a genetic change is identified that is likely constitutional and clearly pathogenic, follow-up with a medical genetics consultation may be suggested.


The absence of an abnormal clone may be the result of specimen collection from a site that is not involved in the neoplasm or may indicate that the genetic abnormality is not detectable by this assay.


This test is not approved by the US Food and Drug Administration and it is best used as an adjunct to existing clinical and pathologic information.


This test is not appropriate when the reason for referral indicates acute promyelocytic leukemia (APL). FISH testing for t(15;17) is more appropriate.


This test does not detect point mutations, small deletions or insertions below the resolution of the assay, or other types of mutations such as epigenetic changes.


Low level abnormal clones may not be detected by this test; as such it is not recommended for minimal residual disease monitoring.


The results of this test may reveal incidental findings not related to the original reason for referral.

Clinical Reference

1. Grimwade D, Hills RK, Moorman AV, et al: Refinement of cytogenetics classification in acute myeloid leukemia: determination of prognostic significance or rare recurring chromosomal abnormalities among 5879 younger adult patients treated in the United Kingdom Research Council trials. Blood 2010 Jul;116(3):354-365

2. International Agency for Research on Cancer (IARC): World Health Organization (WHO) classification of tumour of haematopoietic and lymphoid tissues. Edited by SH Swerdlow, E Campo, NL Harris, et al. IARC Press, Oxford: Oxford University Press (distributor), 2008

Day(s) and Time(s) Performed

Samples processed Monday through Friday. Results reported Monday through Friday, 8 a.m.-5 p.m.

Analytic Time

14 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. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPAML MatePair, AML Panel In Process


Result ID Test Result Name Result LOINC Value
113478 Result Summary 50397-9
113479 Interpretation 69965-2
113480 Result Table 36908-2
113481 Result In Process
113482 Nomenclature 62356-1
GC010 Reason for Referral 42349-1
GC011 Specimen 31208-2
113483 Source 31208-2
113484 Method 49549-9
113485 Additional Information 48767-8
113486 Released By 18771-6

NY State Approved