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Test Code MISC2MAYONGSHM MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies

Useful For

Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias) at the time of diagnosis or possibly disease relapse

 

Aiding in determining diagnostic classification

 

Providing prognostic or therapeutic information for helping guide clinical management

 

Evaluating patients with suspected VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome

 

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

Method Name

Next-Generation Sequencing (NGS)

Reporting Name

Myeloid Neoplasms, NGS, V

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:

 

Preferred Specimen Type: Bone marrow aspirate

Container/Tube:

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

Acceptable: Green top (sodium heparin)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Whole blood

Container/Tube:

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

Acceptable: Green top (sodium heparin)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

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

Reject Due To

Gross hemolysis Reject
Gross lipemia OK
Bone marrow biopsies
Slides
Paraffin shavings or frozen tissues
Paraffin-embedded tissues
Paraffin-embedded bone marrow aspirates
Moderately to severely clotted		 Reject

Clinical Information

Next-generation sequencing 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 that enable more specific categorization. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed or confirmed and classified according to the gene mutation profile. Patients with unexplained cytopenias may harbor acquired genetic alterations in hematopoietic cells (clonal cytopenias of uncertain significance), which may carry risk of developing overt myeloid malignancies. The presence and pattern of gene mutations in known or suspected myeloid neoplasm can provide critical diagnostic, prognostic, and therapeutic information to help guide management for the patient's physician. Patients presenting with severe inflammatory features, often with cytopenias, may have VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome and can be identified by the presence of somatic UBA1 gene mutation.

Reference Values

An interpretive report will be provided.

Interpretation

Detailed variant assessment and interpretive comments will be provided for all reportable genetic alterations.

 

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.

Method Description

Next-generation sequencing is performed for the presence of a mutation in targeted regions of 47 genes. For details regarding the targeted gene regions identified in this test see Targeted Genes Interrogated by Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing. Extracted DNA from the clinical specimen is fragmented, adapter ligated, and a sequence library of fragments is prepared using a custom capture hybridization method. Individual patient samples are indexed ("bar-coded") for identification, and the library is sequenced on an Illumina platform. Sequence data are processed through a bioinformatics pipeline, and a variant call file is generated for final analysis and reporting.(Unpublished Mayo method)

 

Genes analyzed: ANKRD26, ASXL1, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A, ELANE, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NF1, NPM1, NRAS, PHF6, PPM1D, PTPN11, RAD21, RUNX1, SETBP1, SH2B3, SF3B1, SMC3, SRSF2, STAG2, STAT3, TERT, TET2, TP53, U2AF1, UBA1, WT1, and ZRSR2

Day(s) Performed

Monday through Friday

Report Available

16 to 21 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

81450

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGSHM Myeloid Neoplasms, NGS, V 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 82939-0
37283 Interpretation 69047-9
37282 Clinical Trials 82786-5
37277 Variants of Unknown Significance 93367-1
37278 Additional Notes 48767-8
37279 Method Summary 85069-3
37420 Disclaimer 62364-5
37280 OncoHeme Panel Gene list 36908-2
37287 Reviewed By: 18771-6

Forms

1. Hematopathology Patient Information (T676)

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

Secondary ID

63367