Test Catalog

Test Id : NGSMM

Multiple Myeloma Gene Panel, Next-Generation Sequencing, Bone Marrow

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing to evaluate for the following 61 genes and intronic regions: AKT1, AKT2, AKT3, AKT3-G, ATM, B2M, BIRC2, BIRC3, BRAF, CCND1, CD38, CDK4, CDK7, CDKN1B, CDKN2A, CDKN2A-G, CRBN, CUL4A, CUL4B, CXCR4, DIS3, DIS3-G, EGFR, FGFR3, FGFR3-G, GRB2, IDH1, IDH2, IDH3A, IFNGR2, IGF1R, IKZF1, IKZF3, IL6, IL6R, IRF4, JAK2, KDM6A, KDM6A-G, KRAS, MYC, MYD88, NFKB2, NR3C1, NRAS, NSD2, PIK3CA, PIK3CG, PIK3R1, PIK3R1-G, PIK3R2, PIM1, PIM2, PIM3, PSMA1, PSMB5, PSMB5-G, PSMD1, PSMG2, PTPN11, RB1, STAT3, TENT5C (alias FAM46C), TGFBR2, TLR4, TP53, TRAF3, and XBP1.

 

See Targeted Genes Interrogated by Multiple Myeloma Next-Generation Sequencing for a list of the genes and exons targeted by this assay.

Highlights

Next-generation sequencing detection of somatic gene variations in multiple myeloma may have prognostic and potential therapeutic implications.

 

This test is appropriate for diagnosis and disease relapse.

Additional Tests
Lists tests that are always performed, at an additional charge, with the initial tests.

Test Id Reporting Name Available Separately Always Performed
CSNMM NGSMM Pre-Analysis Cell Sorting, BM No Yes

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Next-Generation Sequencing (NGS)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

NGS Multiple Myeloma

Aliases
Lists additional common names for a test, as an aid in searching

AKT1

AKT2

AKT3

ATM

B2M

BIRC2

BIRC3

BRAF

CCND1

CD38

CDK4

CDK7

CDKN1B

CDKN2A

CRBN

CUL4A

CUL4B

CXCR4

DIS3

EGFR

FAM46C

FGFR3

GRB2

IDH1

IDH2

IDH3A

IFNGR2

IGF1R

IKZF1

IL6

JAK2

KDM6A

KRAS

MYC

MYD88

NFKB2

NR3C1

NRAS

PIK3CA

PIK3CG

PIK3R1

PIK3R2

PIM1

PIM2

PIM3

PSMA1

PSMB5

PSMD1

PSMG2

PTPN11

RB1

STAT3

TGFBR2

TLR4

TP53

TRAF3

XBP1

Next gen sequencing of myeloma

Next gen sequencing of plasma cell myeloma

Next Gen Sequencing Test

NGS cancer panel, multiple myeloma

Somatic mutation detection by next generation sequencing (NGS), myeloma

IL6R

IRF4

Multiple myeloma

IKZF3

TENT5C

Specimen Type
Describes the specimen type validated for testing

Bone Marrow

Shipping 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

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP024 Specimen Type
NGSD Indication for Test

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Gross lipemia OK
Other Bone marrow biopsies Slides Paraffin shavings Frozen tissues Paraffin-embedded tissues Paraffin-embedded bone marrow aspirates Extracted DNA Bone marrow aspirate samples with <15% plasma cells by cytologic differential count

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Bone Marrow Ambient (preferred) 4 days PURPLE OR PINK TOP/EDTA

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing to evaluate for the following 61 genes and intronic regions: AKT1, AKT2, AKT3, AKT3-G, ATM, B2M, BIRC2, BIRC3, BRAF, CCND1, CD38, CDK4, CDK7, CDKN1B, CDKN2A, CDKN2A-G, CRBN, CUL4A, CUL4B, CXCR4, DIS3, DIS3-G, EGFR, FGFR3, FGFR3-G, GRB2, IDH1, IDH2, IDH3A, IFNGR2, IGF1R, IKZF1, IKZF3, IL6, IL6R, IRF4, JAK2, KDM6A, KDM6A-G, KRAS, MYC, MYD88, NFKB2, NR3C1, NRAS, NSD2, PIK3CA, PIK3CG, PIK3R1, PIK3R1-G, PIK3R2, PIM1, PIM2, PIM3, PSMA1, PSMB5, PSMB5-G, PSMD1, PSMG2, PTPN11, RB1, STAT3, TENT5C (alias FAM46C), TGFBR2, TLR4, TP53, TRAF3, and XBP1.

 

See Targeted Genes Interrogated by Multiple Myeloma Next-Generation Sequencing for a list of the genes and exons targeted by this assay.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

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

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is a targeted next-generation sequencing (NGS) panel assay that encompasses 61 genes and gene regions with variable full exon, partial region, or hot spot coverage (depending on specific locus). This test will, therefore, not detect other genetic abnormalities in genes or regions outside the specified target areas. The test detects single base substitutions (ie, point mutations) as well as small insertion or deletion type events. It does not detect gene rearrangements (ie, translocations), gene fusions, copy number variants, or large scale (segmental chromosome region) deletions and complex changes.

 

This assay does not distinguish between somatic and germ line alterations in analyzed gene regions, particularly with variant allele frequencies (VAF) near 50% or 100%. If nucleotide alterations in genes associated with germ line variant syndromes are present and there is a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. Variant calls detected between 5% and 10% VAF may indicate low-level (ie, subclonal) tumor populations, although the clinical significance of these findings may not be evident. Some apparent alterations classified as variants of undetermined significance (VUS) may represent rare or low frequency polymorphisms.

 

Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, prior allogeneic hematopoietic stem cell transplant (HSCT) may cause difficulties in resolving somatic or polymorphic alterations, or in assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (eg, chimerism engraftment status) is not provided.

 

NGS analysis should not be attempted if the plasma cell percentage is below approximately 15% by cytologic differential count, as the risk of insufficient target cell population enrichment is more likely, leading to assay failure.

 

Correlation with clinical, histopathologic, and additional laboratory findings is required for final interpretation of these results. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

See Targeted Genes Interrogated by Multiple Myeloma Next-Generation Sequencing in Special Instructions for details regarding the targeted gene regions identified by this test. Plasma cells are enriched by fluorescence activated cell sorting. 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  for identification and the library is sequenced on an Illumina platform. Sequence data is processed through a bioinformatics pipeline and a variant call file is generated for final analysis and reporting.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

14 to 21 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

DNA 3 months; Peripheral blood, bone marrow: 2 weeks

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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 US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

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® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
NGSMM NGS Multiple Myeloma In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
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 85069-3
43483 Disclaimer 62364-5
43484 NGSMM Panel Gene list 36908-2
43485 Reviewed By 19139-5

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports