Test Id : PCPDS

Pre-analysis plasma cell sorting will be performed to determine if sufficient plasma cells are present within the provided specimen at an additional charge.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If an insufficient number of plasma cells are available for analysis, no analysis charges will be incurred. 

This test is performed using either the diagnostic or follow-up analysis algorithm.

If sufficient plasma cells are identified, the diagnostic plasma cell high-risk FISH panel includes testing for the following abnormalities using the FISH probes listed:

1p deletion/1q gain, CDKN2C/1q22 probe set

t(14q32;var) or IGH rearrangement, IGH break-apart probe set

-17/17p-, TP53/D17Z1 probe set

If an IGH rearrangement is identified, appropriate reflex testing will be performed in an attempt to identify the translocation partner using the FISH probes listed:

t(4;14)(p16.3;q32) IGH::FGFR3 fusion, FGFR3/IGH probe set

t(11;14)(q13;q32) or IGH::CCND1 fusion, CCND1/IGH probe set

t(14;16)(q32;q23) IGH::MAF fusion, IGH/MAF probe set

t(14;20)(q32;q12) IGH::MAFB fusion, IGH/MAFB probe set

If sufficient plasma cells are identified, the follow-up plasma cell high-risk FISH panel includes testing for the following abnormalities using the FISH probes listed:

1p deletion/1q gain, CDKN2C/1q22 probe set

t(8q24.21;var) or MYC rearrangement, MYC break-apart probe set

-17/17p-, TP53/D17Z1 probe set

Follow-up testing is determined by the results of either previous PCPDS / Plasma Cell Proliferative Disorder, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow or MPCDS / mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow testing, reported at this laboratory.

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. FISH probes for enumeration of chromosomes 3, 7, 9, and 15 will only be performed at the laboratory's discretion to resolve or confirm concerns of hyperdiploidy. Any additional probes will have the results included within the final report and will be performed at an additional charge.

Fresh bone marrow received within 96 hours post-collection is required for this test.

For the most complete genetic evaluation on fresh bone marrow specimens, order MSMRT/ Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report, Bone Marrow.

For evaluation of high-risk abnormalities, with reflex probes, on fixed cell pellet specimens or bone marrow specimens that will be received greater than 96 hours post-collection, order MFCDF / Myeloma, High Risk, with Reflex Probes, Diagnostic FISH Evaluation, Fixed Cell Pellet. If the specimen received for this test is a fixed cell pellet or is greater than 96 hours from collection, this test will be canceled and automatically reordered by the laboratory as MFCDF.

For testing paraffin-embedded tissue samples from patients with a plasma cell disorder, order PLASF / Plasma Cell Proliferative Disorder, FISH, Tissue. If the specimen received for this test is paraffin-embedded, this test will be canceled and automatically reordered by the laboratory as PLASF.

1. Specimen should arrive within 96 hours of collection.

2. Advise Express Mail or equivalent if not on courier service.

1. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

2. A flow cytometry and/or a bone marrow pathology report should be submitted with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (sodium heparin) or lavender top (EDTA)

Specimen Volume: 4 mL

Collection Instructions:

1. It is preferable to send the first aspirate from the bone marrow collection.

2. Invert several times to mix bone marrow.

3. Send bone marrow in original tube. Do not aliquot.

 If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Bone marrow: 2 mL

Detecting, at diagnosis, recurrent common high-risk chromosome abnormalities associated multiple myeloma or other plasma cell proliferative disorders, using a laboratory-designated probe set algorithm

Identifying high-risk prognostic markers associated multiple myeloma or other plasma cell proliferative disorders

This test should not be used to track the progression of disease.

Pre-analysis plasma cell sorting will be performed to determine if sufficient plasma cells are present within the provided specimen at an additional charge.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If an insufficient number of plasma cells are available for analysis, no analysis charges will be incurred. 

This test is performed using either the diagnostic or follow-up analysis algorithm.

If sufficient plasma cells are identified, the diagnostic plasma cell high-risk FISH panel includes testing for the following abnormalities using the FISH probes listed:

1p deletion/1q gain, CDKN2C/1q22 probe set

t(14q32;var) or IGH rearrangement, IGH break-apart probe set

-17/17p-, TP53/D17Z1 probe set

If an IGH rearrangement is identified, appropriate reflex testing will be performed in an attempt to identify the translocation partner using the FISH probes listed:

t(4;14)(p16.3;q32) IGH::FGFR3 fusion, FGFR3/IGH probe set

t(11;14)(q13;q32) or IGH::CCND1 fusion, CCND1/IGH probe set

t(14;16)(q32;q23) IGH::MAF fusion, IGH/MAF probe set

t(14;20)(q32;q12) IGH::MAFB fusion, IGH/MAFB probe set

If sufficient plasma cells are identified, the follow-up plasma cell high-risk FISH panel includes testing for the following abnormalities using the FISH probes listed:

1p deletion/1q gain, CDKN2C/1q22 probe set

t(8q24.21;var) or MYC rearrangement, MYC break-apart probe set

-17/17p-, TP53/D17Z1 probe set

Follow-up testing is determined by the results of either previous PCPDS / Plasma Cell Proliferative Disorder, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow or MPCDS / mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow testing, reported at this laboratory.

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. FISH probes for enumeration of chromosomes 3, 7, 9, and 15 will only be performed at the laboratory's discretion to resolve or confirm concerns of hyperdiploidy. Any additional probes will have the results included within the final report and will be performed at an additional charge.

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: monoclonal gammopathy of undetermined significance (MGUS), monoclonal immunoglobulin deposition diseases (amyloidosis), plasmacytoma, and multiple myeloma. MGUS, which occurs in 3% to 4% of individuals older than 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.

An interpretive report will be provided.

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

The absence of an abnormal clone does not rule out the presence of a plasma cell clone or another neoplastic disorder.

This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information.

If no fluorescence in situ hybridization (FISH) signals are observed post-hybridization, the case will be released indicating a lack of FISH results.

If an insufficient number or plasma cells are identified in the sample, the case will be cancelled.

If the sample is not received within 96 hours of collection, the case will be cancelled and reordered as MFCDF / Myeloma, High Risk, with Reflex Probes, Diagnostic FISH Evaluation, Fixed Cell Pellet.

1. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumour of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017. WHO Classification of Tumours, Vol 2

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;125(20):3069-3075. doi:10.1182/blood-2014-09-568899

4. Muchtar E, Dispenzieri A, Kumar SK, et al. Interphase fluorescence in situ hybridization in untreated AL amyloidosis has an independent prognostic impact by abnormality type and treatment category. Leukemia. 2017;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;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 28;128(4):594-602. doi:10.1182/blood-2015-10-676361

7. Treatment guidelines: multiple myeloma. mSMART 3.0. Accessed March 11, 2025. Available at www.msmart.org/mm-treatment-guidelines

This test is performed using commercially available and laboratory-developed probes on sorted plasma cells. Deletion of the TP53 locus from chromosome 17 or monosomy 17 and deletion of the CDKN2C locus or gain of the 1q22 locus are detected using enumeration strategy probe sets. Rearrangements involving IGH and MYC are detected using dual-color break-apart strategy probe sets. Dual-color, dual-fusion fluorescence in situ hybridization strategy probe sets are used when a rearrangement of the IGH gene is detected. For each probe set, 50 plasma cells (if possible) are scored and the result for each probe is reported.(Unpublished Mayo method)

Monday through Friday

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This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

88271 x 2, 88274, 88291-FISH Probe, Analysis, Interpretation; 1 probe set

88271 x 2, 88274-FISH Probe, Analysis; each additional probe set (if appropriate)