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Test ID NGSHM OncoHeme Next-Generation Sequencing for Myeloid Neoplasms

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

Highlights

Next-generation sequencing detection of somatic gene mutations, including type, pattern and distribution, has diagnostic, prognostic, and potential therapeutic implications for patients with hematologic cancers of myeloid origin.

Testing Algorithm

The following are available in Special Instructions:

-Targeted Genes Interrogated by OncoHeme Next-Generation Sequencing; this is a list of the genes and exons targeted by this test.

-Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

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 uL at 20 ng/uL concentration

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies 14 days

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday, Wednesday

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

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
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 In Process
37276 Pathogenic Mutations Detected 41103-3
37283 Interpretation 69047-9
37282 Clinical Trials 82786-5
37277 Variants of Unknown Significance 82939-0
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 Form (T726) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)

Genetics Test Information

This test includes next-generation sequencing to evaluate for the following 42 genes and select intronic regions: ANKRD26, ASXL1, BCOR, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A,ELANE, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RAD21, RUNX1, SETBP1, SH2B3, SF3B1, SRP72, SMC3, SRSF2, STAG2,TERT, TET2, TP53, U2AF1, WT1, and ZRSR2.