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HelpTest ID: NGSMM Multiple Myeloma Gene Panel, Next-Generation Sequencing, Bone Marrow
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 alteration 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.
Special Instructions
Method Name
Next-Generation Sequencing (NGS)
Reporting Name
NGS Multiple MyelomaSpecimen Type
Bone MarrowShipping Instructions
Ship samples Monday through Friday
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 | Special Container |
|---|---|---|---|
| Bone Marrow | Ambient | 4 days | PURPLE OR PINK TOP/EDTA |
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 that includes preanalytic plasma cell enrichment, NGS, and detailed analysis resulted in a clinical report.
Reference Values
An interpretive report will be provided.
Interpretation
An interpretive report will be provided that includes the 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
Analytic Time
14 daysTest 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 | No LOINC Needed |
| 43478 | Pathogenic Mutations Detected | 41103-3 |
| 43477 | Interpretation | 69047-9 |
| 43479 | Clinical Trials | 82786-5 |
| 43480 | Variants of Unknown Significance | 93367-1 |
| 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 |
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.
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CSNMM | NGSMM Pre-Analysis Cell Sorting, BM | No | Yes |
mml-myeloma-amyloidosis-dysprotenemia