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.