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Test ID: NGAMT Next-Generation Sequencing Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Varies


Advisory Information


This test  is a subset of the NGSHM / OncoHeme Next-Generation Sequencing for Myeloid Neoplasms test and focuses more specifically on the gene mutations that are most utilized for therapeutic management of 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


Peripheral blood and bone marrow specimens must arrive within 14 days of collection.



Necessary Information


The following information is required:

1. Clinical diagnosis

2. Pertinent clinical history, including disease phase (diagnostic, remission, relapse/refractory) and therapy status (especially if patient has received a hematopoietic stem cell transplant).

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)

Container/Tube:

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

Acceptable: Heparin (green top)

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

Container/Tube:

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

Acceptable: Heparin (green top)

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 from blood or bone marrow

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

Specimen Volume: 100 uL at 20 ng/uL concentration

Collection Instructions: Label specimen as extracted DNA and source of specimen

Specimen Stability: Frozen (preferred)/Refrigerate/Ambient


Forms

1. Hematopathology Patient Information (T676) in Special Instructions

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

Useful For

Evaluation of acute myeloid leukemia (AML) using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help determine optimal (eg, targeted) therapeutic approaches

Testing Algorithm

See Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm in Special Instructions

 

See Targeted Genes Interrogated by Next-Generation Sequencing, Acute Myeloid Leukemia, Therapeutic, 4-Gene Panel in Special Instructions for a list of the genes and exons targeted by this test.

Method Name

Somatic Mutation Detection by Next-Generation Sequencing (NGS)

Reporting Name

AML 4 Gene Panel, Therapeutic

Specimen Type

Varies

Specimen Minimum Volume

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

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 14 days

Clinical Information

Next-generation sequencing (NGS) is a comprehensive molecular diagnostic 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, particularly if targeted therapies are available.

Reference Values

An interpretive report will be provided.

Interpretation

Mutations (gene alterations) identified, if present, using human reference genome build GRCh37 (hg19). 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. Amatangelo MD, Quek L, Shih A, et al.: Enasidenib induces acute myeloid leukemia cell differentiation to promote clinical response. Blood 2017;130(6):732-741

4 Stone RM, Mandrekar SJ, Sanford BL, et al.: Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation. N Engl J Med 2017;377:454-464

5 Stein EM, DiNardo CD, Pollyea DA, et al. Enasidenib in mutant IDH2 relapsed or refractory acute myeloid leukemia. Blood 2017;130(6):722-731

Day(s) and Time(s) Performed

Monday, Wednesday

Analytic Time

14 days

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

81120

81121

81245

81246

81352

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGAMT AML 4 Gene Panel, Therapeutic In Process

 

Result ID Test Result Name Result LOINC Value
MP040 Specimen Type 31208-2
NGAID Diagnosis/Indication 29308-4
601698 NGAMT Result No LOINC Needed
601700 Pathogenic Mutations Detected 47997-2
601699 Interpretation 69047-9
601701 Clinical Trials 82786-5
601702 Variants of Unknown Signficance 93367-1
601703 Additional Notes 48767-8
601704 Method Summary 49549-9
601705 Disclaimer 62364-5
601706 AML 4 Gene Panel Gene List 47999-8
601707 Reviewed By: 18771-6
Mayo Clinic Laboratories | Hematology Catalog Additional Information:

mml-acute-leukemia