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Test Code NGSMM NGSMM Next-Generation Sequencing (NGS), Multiple Myeloma

Secondary ID


Useful For

Evaluation of multiple myeloma at the time of diagnosis, for prognostic and potential therapeutic indications


Identification of the presence of new, clinically important, gene mutation changes at relapse

Testing Algorithm

See Targeted Genes Interrogated by Multiple Myeloma Next-Generation Sequencing 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)

Reporting Name

NGS Multiple Myeloma

Specimen Type

Bone Marrow

Shipping Instructions

Specimens must be received in the laboratory Monday through Thursday to ensure arrival within 72 hours of collection. Specimens received on other days cannot be processed in sufficient time for adequate plasma cell viability and recovery.

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

Specimen Type: Bone marrow aspirate

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

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.

4. Fresh specimen is required for this test, as testing is performed on sorted cells.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Bone Marrow Ambient 4 days

Reject Due To


Mild OK; Gross reject


Mild OK; Gross OK




Bone marrow biopsies, heparin anticoagulant, slides, paraffin shavings, frozen tissues, paraffin-embedded tissues, paraffin-embedded bone marrow aspirates, peripheral blood, extracted DNA, or bone marrow aspirate samples with <15% plasma cells by cytologic differential count.

Clinical Information

Multiple myeloma (MM) is a malignancy of bone marrow plasma cells with an annual incidence of 200,000 per annum. Comprehensive clinical, radiologic and laboratory evaluation can initially stratify patients by disease phase and burden. Cytogenetic and FISH studies are important to help classify MM into standard, intermediate, and high risk groups. Advances in nontargeted therapies (including autologous bone marrow transplantation) have significantly improved the outcome of many patients; however, most patients with myeloma suffer relapse after initial treatment. Clinical next-generation sequencing (NGS) technology has enabled a deeper and more detailed evaluation of MM genetics. Testing allows for further risk categorization of the disease through the identification of additional abnormalities of prognostic and potentially therapeutic value. Application of targeted NGS-based analysis is a useful adjunct to the standard evaluation of MM patients at diagnosis and relapse. This test comprises a DNA-based multigene panel (NGSMM) that includes preanalytic plasma cell enrichment, NGS (Illumina platform), and detailed analysis resulted in a clinical report.

Reference Values

An interpretive report will be provided.


An interpretive report will be provided that includes the mutations (gene alterations) identified, if present.

Clinical Reference

1. Walker BA, Boyle, EM, Wardell CP, et al: Mutational spectrum, copy number changes, and outcome: results of a sequencing study of patients with newly diagnosed myeloma. J Clin Oncol 2015;33:3911-3920

2. Morgan GJ, Walker BA, Davies FE: The genetic architecture of multiple myeloma. Nat RevCancer. 2012;12(5):335-348

3. Kortuem KM, Braggio E, Bruins L, et al: Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients. Blood Cancer J. 2016;6:e397

4. Kortuem KM, Mai EK, Hanafiah NH, et al: Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes. Blood 2016;128:1226-1233

Day(s) and Time(s) Performed

Monday, Wednesday

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

81455- Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm, DNA and RNA analysis when performed, 51 or greater genes (eg, ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, RLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NPM1, NRAS, MET, NOTCH1, PDGRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGSMM NGS Multiple Myeloma In Process


Result ID Test Result Name Result LOINC Value
43553 NGSMM Result In Process
43478 Pathogenic Mutations Detected 41103-3
43477 Interpretation 69047-9
43479 Clinical Trials 82786-5
43480 Variants of Unknown Significance 82939-0
43481 Additional Notes 48767-8
43482 Method Summary 49549-9
43483 Disclaimer 62364-5
43484 NGSMM Panel Gene list 36908-2
43485 Reviewed By 19139-5


Hematopathology Patient Information (T676) in Special Instructions

Additional Tests

Test ID Reporting Name Available Separately Always Performed
CKNMM NGSMM Pre-Analysis Cell Sorting, BM No, (Bill Only) Yes