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Test Code NGAML Next-Generation Sequencing (NGS), Acute Myeloid Leukemia, 8-Gene Panel

Advisory Information

This test (NGAML) is a subset of the NGSHM test and focuses more specifically on the gene mutations that are most prevalent and clinically significant in acute myeloid leukemias (AML). If a wider gene mutation analysis is desired, or the indication is for a myeloid malignancy other than AML, then NGSHM / OncoHeme Next-Generation Sequencing (NGS), Hematologic Neoplasms should be considered.

Shipping Instructions

Bone marrow and peripheral blood specimens must arrive within 14 days of collection.

Necessary Information

The following information is required:

1. Clinical diagnosis

2. Pertinent clinical history

3. Clinical or morphologic suspicion

4. Date of collection

5. Specimen source

Specimen Required

Submit only 1 of the following specimens:


Specimen Type: Bone marrow aspirate (preferred)


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Green top (heparin)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

Specimen Stability: Ambient (preferred)/Refrigerate


Specimen Type: Peripheral blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Green top (heparin)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

Specimen Stability: Ambient (preferred)/Refrigerate


Specimen Type: Extracted DNA

Container/Tube: 1.5-2 mL tube with indication of volume and concentration of the DNA.

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA and source of specimen and provide indication of volume and concentration of the DNA.

Specimen Stability: Frozen/Refrigerated/Ambient


1. Hematopathology Patient Information (T676) in Special Instructions.

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

Secondary ID


Useful For

Evaluation of acute myeloid leukemia (AML) at the time of diagnosis, to assist in appropriate classification and prognosis, using an 8-gene panel


Evaluation to determine if a different gene mutation profile is present at the time of AML relapse

Testing Algorithm

See Targeted Genes Interrogated by Next-Generation Sequencing, Acute Myeloid Leukemia, 8 Gene Panel in Special Instructions for a list of the genes and exons targeted by this assay.

Method Name

Somatic Mutation Detection by Next-Generation Sequencing (NGS), Hematologic Neoplasms

Reporting Name

Next Gen Sequencing, AML, 8 Gene

Specimen Type


Specimen Minimum Volume

Blood, Bone Marrow: 1 mL
Extracted DNA: 100 mcL at 20 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies 14 days

Reject Due To


Mild OK; Gross reject


Mild OK; Gross OK




Bone marrow biopsies, slides, paraffin shavings, frozen tissues, paraffin-embedded tissues, paraffin-embedded bone marrow aspirates, moderately to severely clotted, or lithium heparin anticoagulant

Clinical Information

Next-generation sequencing (NGS) is a rapidly evolving and complex methodology that can interrogate multiple regions of genomic tumor DNA in a single assay. Many hematologic neoplasms, including acute myeloid leukemia (AML), are characterized by morphologic or phenotypic similarities, but can have characteristic somatic mutations in many genes. In addition, many cases of AML lack a clonal cytogenetic finding at diagnosis (normal karyotype) and can be better classified according to gene mutation profile. The presence and pattern of gene mutations in AML can provide critical prognostic information and may help in guiding therapeutic management decisions by physicians.

Reference Values

An interpretive report will be provided.


Mutations (gene alterations) identified, if present. An interpretive report will be provided.

Clinical Reference

1. Patel JP, Levine RL: How do novel molecular genetic markers influence treatment decisions in acute myeloid leukemia? Hematology Am Soc Hematol Educ Program 2012;2012:28-34

2. Lindsley RC, Ebert BL: The biology and clinical impact of genetic lesions in myeloid malignancies. Blood 2013;23:3741-3748

3. Patel JP, Gonen M, Figueroa ME, et al: Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012;366:1079-1089

4. Ley T, Miller C, Ding L, et al: Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013;368(22):2059-2074

5. Ding L, Ley TJ, Larson DE, et al: Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 2012;481:506-510

Day(s) and Time(s) Performed

Tuesday, Friday

Analytic Time

14 days

Performing Laboratory

Mayo Medical 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

81450-Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, DNA and RNA when performed, 5-50 genes (eg, BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KRAS, KIT, MLL, NRAS, NPM1, NOTCH1), interrogation for sequence variants and copy number variants or rearrangements, or isoform expression of mRNA expression levels, if performed.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGAML Next Gen Sequencing, AML, 8 Gene In Process


Result ID Test Result Name Result LOINC Value
MP038 Specimen Type 31208-2
43554 NGAML Result In Process
43488 Pathogenic Mutations Detected 41103-3
43487 Interpretation 69047-9
43489 Clinical Trials 82786-5
43490 Variants of Unknown Significance 82939-0
43491 Additional Notes 48767-8
43492 Method Summary 49549-9
43493 Disclaimer 62364-5
43494 AML Panel Gene List 36908-2
43495 Reviewed By 19139-5