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24744 Plasma Cell Proliferative Disorder FISH, Bone Marrow (PCPDS)

Plasma Cell Proliferative Disorder FISH, Bone Marrow (PCPDS)
Test Code: PCPDFSO
Synonyms/Keywords
-17 (monosomy 17), 17p- (17p deletion) or TP53, 1p32.3- (1p deletion) or CDKN2C, 1q22+ (1q duplication or 1q amplification), IGH (14q32) rearrangement, Monoclonal Gammopathy of Undetermined Significance (MGUS), Multiple Myeloma, Plasma Cell Leukemia, t(11;14)(q13.3;q32.33) or IGH::CCND1 fusion or CCND1/IGH, t(14;16)(q32.33;q23.2) IGH::MAF fusion or IGH/MAF, t(14;20)(q32.33;q12) IGH::MAFB fusion or IGH/MAFB, t(4;14)(p16.3;q32.33) IGH::FGFR3 fusion or FGFR3/IGH
Useful For

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

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

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

Testing Algorithm:
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 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.  

If sufficient plasma cells are identified, the 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 

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.​

Ordering Guidance:​

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.​

Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
Bone Marrow ACD Yellow top tube (YTT)

​EDTA Lavender top tube (LTT)

Heparin Green top tube (GTT)

​4 mL ​2 mL
Collection Processing Instructions

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

Shipping Instructions:

1. Specimen should arrive within 96 hours of collection.

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.

Necessary Information:
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.​

Specimen Stability Information
Specimen Type Temperature​Time
​Bone Marrow ​ ​Ambient (preferred)​4 days
​Refrigerated​4 days
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.​
Interference

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.​

Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available
Methodology/Instrumentation
​Mayo Clinic Laboratories
Monday through Friday
7 to 10 days​
PCPDS, PCPDB: Fluorescence In Situ Hybridization (FISH)
CSPCF: Flow Cytometric Cell Selection​
Reference Lab
Test Information

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 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 Range Information
An interpretive report will be provided.
Interpretation
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​​88291 ​1
​88271 2
88274​
​1



​88184


​1




​88185


​​5
Synonyms/Keywords
-17 (monosomy 17), 17p- (17p deletion) or TP53, 1p32.3- (1p deletion) or CDKN2C, 1q22+ (1q duplication or 1q amplification), IGH (14q32) rearrangement, Monoclonal Gammopathy of Undetermined Significance (MGUS), Multiple Myeloma, Plasma Cell Leukemia, t(11;14)(q13.3;q32.33) or IGH::CCND1 fusion or CCND1/IGH, t(14;16)(q32.33;q23.2) IGH::MAF fusion or IGH/MAF, t(14;20)(q32.33;q12) IGH::MAFB fusion or IGH/MAFB, t(4;14)(p16.3;q32.33) IGH::FGFR3 fusion or FGFR3/IGH
Ordering Applications

Ordering Application Description
​Cerner ​Plasma Cell Proliferative Disorder, FISH (PCPDS)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
Bone Marrow ACD Yellow top tube (YTT)

​EDTA Lavender top tube (LTT)

Heparin Green top tube (GTT)

​4 mL ​2 mL
Collection Processing

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

Shipping Instructions:

1. Specimen should arrive within 96 hours of collection.

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.

Necessary Information:
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.​

Specimen Stability Information
Specimen Type Temperature​Time
​Bone Marrow ​ ​Ambient (preferred)​4 days
​Refrigerated​4 days
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.​
Interference

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.​

Useful For

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

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

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

Testing Algorithm:
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 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.  

If sufficient plasma cells are identified, the 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 

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.​

Ordering Guidance:​

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.​

Reference Range Information
An interpretive report will be provided.
Interpretation
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available
Methodology/Instrumentation
​Mayo Clinic Laboratories
Monday through Friday
7 to 10 days​
PCPDS, PCPDB: Fluorescence In Situ Hybridization (FISH)
CSPCF: Flow Cytometric Cell Selection​
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​​88291 ​1
​88271 2
88274​
​1



​88184


​1




​88185


​​5
For most current information refer to the Marshfield Laboratory online reference manual.