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Test Code CHFXH Chromosome Analysis, Hematologic Disorders, Fixed Cells

Useful For

Assisting in the diagnosis and classification of certain malignant hematological disorders in fixed cells

 

Evaluating the prognosis of patients with certain malignant hematologic disorders

 

Monitoring effects of treatment

 

Monitoring patients in remission

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_ML20 Metaphases, 1-19 No, (Bill Only) No
_M25 Metaphases, 20-25 No, (Bill Only) No
_MG25 Metaphases, >25 No, (Bill Only) No
_STAC Ag-Nor/CBL Stain No, (Bill Only) No

Testing Algorithm

This test only includes a charge for professional interpretation of results and does not include charges for analysis.

 

Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 or more metaphase cells for this test. 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. See the Method Description for specific details.

 

For more information see:

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

-Bone Marrow Staging for Known or Suspected Malignant Lymphoma Algorithm

-Multiple Myeloma: Laboratory Screening

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

Method Name

Chromosome Analysis

Reporting Name

Chromosomes, Hematol Fixed Cells

Specimen Type

Varies


Necessary Information


A pathology and/or flow cytometry report may be requested by the Genomics Laboratory to optimize testing and aid in interpretation of results.

 

Provide a reason for testing and specimen type 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 Required


Specimen Volume: 2 mL

Additional Information: Advise Express Mail or equivalent if not on courier service.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

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.

Reference Values

An interpretative report will be provided.

Interpretation

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, we may have a FISH study option that could be performed.

Cautions

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

 

Interfering factors

Technical:

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

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

 

Biological:

-Abnormalities missed due to sampling error

-Subtle structural chromosome abnormalities may be missed occasionally

-Neoplastic cells not dividing

Method Description

Metaphase cells are dropped onto microscope slides and are stained by G-banding. Other staining methods are employed as needed. Twenty metaphases are usually examined. If a clone is suspected, but not confirmed within 20 metaphases, 30 metaphases will be analyzed. Minimal evidence for the presence of an abnormal clone is defined as 2 or more metaphases with the same structural abnormality or chromosome gain (trisomy), or 3 or more metaphases lacking the same chromosome. All cells analyzed are captured using a computerized imaging system, and 1 or more karyograms from each clone are prepared to document the type of abnormality and to permit systematic interpretation of the anomalies.(Arsham MS, Barch MJ, Lawce HJ, eds. The AGT Cytogenetics Laboratory Manual. 4th ed. John Wiley and Sons; 2017)

Day(s) Performed

Monday through Friday

Report Available

10 to 11 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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.

CPT Code Information

88291- Interpretation and report

88264 w/ modifier 52-Chromosome analysis with less than 20 cells (if appropriate)

88264-Chromosome analysis with 20 to 25 cells (if appropriate)

88264, 88285-Chromosome analysis with greater than 25 cells (if appropriate)

88283-Additional specialized banding technique (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CHFXH Chromosomes, Hematol Fixed Cells In Process

 

Result ID Test Result Name Result LOINC Value
38487 Result Summary 50397-9
38488 Interpretation 69965-2
38489 Result 62356-1
38490 Reason for Referral 42349-1
38491 Specimen 31208-2
38492 Source 31208-2
38493 Method 85069-3
38494 Banding Method 62359-5
38495 Additional Information 48767-8
38496 Released By 18771-6