Sign in →

Test ID: NGSHM OncoHeme Next-Generation Sequencing for Myeloid Neoplasms, Varies

Useful For

Evaluation of hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm) at the time of diagnosis or possibly disease relapse, to help determine diagnostic classification and provide prognostic or therapeutic information for clinical management

 

Determine the presence of new clinically important gene mutation changes at relapse

Method Name

Somatic Mutation Detection by Next-Generation Sequencing (NGS)

Reporting Name

NGS for Myeloid Neoplasms (NGSHM)

Specimen Type

Varies


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), but not preferred

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), but not preferred

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: Entire specimen

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

Specimen Stability: Frozen (preferred)/Refrigerate/Ambient


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 are characterized by morphologic or phenotypic similarities, but can have characteristic somatic mutations in many genes. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed and classified according to the gene mutation profile. The presence and pattern of gene mutations can provide critical diagnostic, prognostic, and sometimes therapeutic information for the managing physicians.

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.

 

If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.

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. Haferlach T, Nagata Y, Grossman V, et al: Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 2014;28:241-247

5. Vainchenker W, Delhommeau F, Constantinescu SN, Bernard OA: New mutations and pathogenesis of myeloproliferative neoplasms. Blood 2011;118:1723-1735

Day(s) and Time(s) Performed

Monday, Wednesday, Friday

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

81450

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGSHM NGS for Myeloid Neoplasms (NGSHM) In Process

 

Result ID Test Result Name Result LOINC Value
MP024 Specimen Type 31208-2
NGSD Indication for Test 42349-1
601696 NGSHM Result No LOINC Needed
37276 Pathogenic Mutations Detected 41103-3
37283 Interpretation 69047-9
37282 Clinical Trials 82786-5
37277 Variants of Unknown Significance 93367-1
37278 Additional Notes 48767-8
37279 Method Summary 49549-9
37420 Disclaimer 62364-5
37280 OncoHeme Panel Gene list 36908-2
37287 Reviewed By: 19139-5

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.

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

mml-acute-leukemia-myelodysplastic-syndromes, mml-myeloproliferative-neoplasm, mml-acute-leukemia