Test Catalog

Test ID: PCPDS    
Plasma Cell Proliferative Disorder, FISH, Bone Marrow

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

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders


Identifying prognostic markers based on the abnormalities found

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test is designed for diagnostic specimens from patients with multiple myeloma or other plasma cell proliferative disorders. If a request for testing has been submitted within 12 months of a complete and informative plasma cell proliferative disorder fluorescence in situ hybridization (FISH) study, the current test request will be cancelled.


This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.


When this test is ordered, pre-analysis cell sorting will be performed at an additional charge.


For diagnostic samples, all probes in the initial panel will be evaluated if sufficient plasma cells are identified. The initial panel includes testing for the following abnormalities using the probes listed:

17p-, TP53/D17Z1

1q gain, TP73/1q22

14q32 rearrangement, IGH


Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities using the probes listed:

t(11;14), CCND1/IGH

t(14;16)(q32;q23) IGH/MAF

t(4;14)(p16.3;q32) FGFR3/IGH

t(14;20)(q32;q12) IGH/MAFB 


For follow-up samples, only TP73/1q22, TP53/D17Z1 and MYC probes will be tested. If a diagnostic sample was uninformative for a probe set due to an insufficient number of plasma cells, attempts may be made to achieve results for the missing probe on a subsequent sample (if sufficient plasma cells are identified).


Initial screening will be performed to determine if sufficient plasma cells are present within the provided specimen.


If the specimen is received greater than 96 hours from collection, or arrives clotted or hemolyzed, this test will be canceled and MFCF / Myeloma, FISH, Fixed Cells will be added as the more appropriate test.

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

Multiple myeloma is a hematologic neoplasm that generally originates in the bone marrow and develops from malignant plasma cells. There are 4 main categories of plasma cell proliferative disorders (PCPD): monoclonal gammopathy of undetermined significance (MGUS), monoclonal immunoglobulin deposition diseases (amyloidosis), plasmacytoma, and multiple myeloma. MGUS, which occurs in 3% to 4% of individuals over age 50 years, represents the identification of an asymptomatic monoclonal protein, yet approximately 1% per year will progress to multiple myeloma. Amyloidosis represents a rare group of deposition disorders including primary amyloidosis vs. light chain and heavy chain disease. Plasmacytomas represent isolated collections of bone or extramedullary plasma cells with a risk for development of multiple myeloma. Generalized bone pain, anemia, limb numbness or weakness, symptoms of hypercalcemia, and recurrent infections are all symptoms that may indicate multiple myeloma.


As myeloma progresses, the malignant plasma cells interfere with normal blood product formation in the bone marrow resulting in anemia and leukopenia. Myeloma also causes an overstimulation of osteoclasts, causing excessive breakdown of bone tissue without the normal corresponding bone formation. These bone lesions are seen in approximately 66% of myeloma patients. In advanced disease, bone loss may reach a degree where the patient suffers fractures easily.


Multiple myeloma is increasingly recognized as a disease characterized by marked cytogenetic, molecular, and proliferative heterogeneity. This heterogeneity is manifested clinically by varying degrees of disease aggressiveness. Multiple myeloma patients with more aggressive disease experience suboptimal responses to some therapeutic approaches; therefore, identifying these patients is critically important for selecting appropriate treatment options.

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

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe.

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

This test is not approved by the FDA and is best used as an adjunct to existing clinical and pathologic information.

Supportive Data

Each probe was independently tested and verified on bone marrow specimens. For each probe set a series of chromosomally abnormal specimens were evaluated to confirm each probe set detected the anomaly it was designed to detect.

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

1. Swerdlow S, Campo E, Harris NL, et al, eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017

2. Kumar SK, Rajkumar SV: The multiple myelomas-current concepts in cytogenetic classification and therapy. Nat Rev Clin Oncol. 2018;15(7):409-421. doi:10.1038/s41571-018-0018-y

3. Rajkumar SV, Landgren O, Mateos MV: Smoldering multiple myeloma. Blood. 2015 May 14;125(20):3069-3075. doi:10.1182/blood-2014-09-568899

4. Muchtar E, Dispenzieri A, Kumar S, et al: Interphase fluorescence in situ hybridization in untreated AL amyloidosis has an independent prognostic impact by abnormality type and treatment category. Leukemia. 2017 Jul;31(7);1562-1569. doi:10.1038/leu.2016.369

5. Lakshman A, Paul S, Rajkumar SV, et al: Prognostic significance of interphase FISH in monoclonal gammopathy of undetermined significance. Leukemia. 2018 Aug;32(8);1811-1815. doi:10.1038/s41375-018-0030-3

6. Bochtler T, Hegenbart U, Kunz C, et al: Prognostic impact of cytogenetic aberrations in AL amyloidosis patients after high-dose melphalan: a long-term follow-up study. Blood. 2016 Jul 28;128(4):594-602. doi.org/10.1182/blood-2015-10-7

7. Treatment guidelines: multiple myeloma. mSMART 3.0, Accessed 01/16/2020. Available at www.msmart.org/mm-treatment-guidelines