Test Catalog

Test ID: CHRBM    
Chromosome Analysis, Hematologic Disorders, Bone Marrow

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

Assisting in the diagnosis and classification of certain malignant hematological disorders


Evaluating the prognosis in patients with certain malignant hematologic disorders


Monitoring effects of treatment


Monitoring patients in remission

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

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.


In addition to the cell culture without mitogens, a CpG-stimulated culture will be added and 10 additional cells will be analyzed for any specimen received from a patient age 30 or older with a reason for testing of chronic lymphocytic leukemia, small lymphocytic leukemia, lymphocytosis, Waldenstrom macroglobulinemia, or when test CLLF / Chronic Lymphocytic Leukemia (CLL), FISH, Varies is ordered concurrently.


The following algorithms are available in Special Instructions:

-Acute Myeloid Leukemia: Testing Algorithm

-Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm

-Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up

-B-Lymphoblastic Leukemia/Lymphoma Algorithm

-Bone Marrow Staging for Known or Suspected Malignant Lymphoma Algorithm

-Laboratory Screening Tests for Suspected Multiple Myeloma

-Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation


If this test is ordered and the laboratory is informed that the patient is on a Children's Oncology Group (COG) protocol, this test will be canceled and automatically reordered by the laboratory as COGBM / Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow.

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

Chromosomal abnormalities play a central role in the pathogenesis, diagnosis, and treatment monitoring of many hematologic disorders. Cytogenetic studies on bone marrow may be helpful in many malignant hematologic disorders as the observation of a chromosomally abnormal clone may be consistent with a neoplastic process.


Certain chromosome abnormalities may help classify a malignancy. As examples, the Philadelphia (Ph) chromosome, also referred to as der(22)t(9;22)(q34;q11.2), is usually indicative of chronic myeloid leukemia (CML) or acute leukemia; t(8;21)(q22;q22) defines a specific subset of patients with acute myeloid leukemia; and t(8;14)(q24.1;q32) is associated with Burkitt lymphoma.


Cytogenetic studies are also used to monitor patients with hematologic neoplasia and may identify disease progression, such as the onset of blast crisis in CML, which is often characterized by trisomy 8, isochromosome 17q, and multiple Ph chromosomes.


Conventional chromosome studies of B-cell disorders are not always successful because B lymphocytes do not proliferate well in cell culture. The agent CpG 7909 (CpG) is a synthetic oligodeoxynucleotide that binds to the Toll-like receptor 9 (TLR9) present on B cells, causing B-cell activation. In the laboratory setting, CpG may be used as a mitogen to stimulate B cells in patient specimens, thus allowing identification of chromosome abnormalities. CpG stimulation reveals an abnormal karyotype in approximately 80% of patients with chronic lymphocytic leukemia, and the karyotype is complex in 20% to 25% of cases. Several studies have reported that increased genetic complexity revealed by CpG-stimulated chromosome studies confers a less favorable time to first treatment, treatment response, and overall survival.

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 interpretative report will be provided.

Interpretation Provides information to assist in interpretation of the test results

To ensure the best interpretation, it is important to provide some clinical information to verify the appropriate type of cytogenetic study is performed.


The following factors are important when interpreting the results:

-Although the presence of an abnormal clone usually indicates a malignant neoplastic process, in rare situations, the clone may reflect a benign condition.

-The absence of an abnormal clone may be the result of specimen collection from a site that is not involved in the neoplasm or may indicate that the disorder is caused by submicroscopic abnormalities that cannot be identified by chromosome analysis.

-On rare occasions, the presence of an abnormality may be associated with a congenital abnormality that is not related to a malignant neoplastic process. Follow-up with a medical genetics consultation is recommended.

-On occasion, bone marrow chromosome studies are unsuccessful. If clinical information has been provided, there may be a fluorescence in situ hybridization (FISH) study option that could be performed.

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

In some cases, fluorescence in situ hybridization (FISH) studies may detect some disorders better than conventional chromosome studies:

-For plasma cell proliferative disorders (PCPDs) such as multiple myeloma, FISH studies will detect chromosome anomalies with prognostic significance much more often than conventional chromosome studies. In this situation, PCPDS / Plasma Cell Proliferative Disorder, FISH, Bone Marrow is recommended.


Interfering factors:


-Excessive transport time

-Insufficient bone marrow specimen

-Not processing the bone marrow as indicated before shipping the specimen

-Not sending the first aspirate from the patient's bone marrow draw



-Abnormalities missed due to sampling error

-Subtle structural chromosome abnormalities may be missed occasionally

-Neoplastic cells not dividing

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

1. Mellors PW, Binder M, Ketterling RH, et al: Metaphase cytogenetics and plasma cell proliferation index for risk stratification in newly diagnosed multiple myeloma. Blood Adv. 2020 May 26;4(10):2236-2244

2. Dewald GW, Ketterling RP, Wyatt WA, Stupca PJ: Cytogenetic studies in neoplastic hematologic disorders. In: McClatchey KD, ed. Clinical Laboratory Medicine. 2nd ed. Williams and Wilkens; 2002:658-685

3. Rigolin GM, Cibien F, Martinelli S, et al: Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with "normal" FISH: correlations with clinicobiological parameters. Blood. 2012 Mar 8;119(10):2310-2313

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