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HelpTest Code CMAT Chromosomal Microarray, Tumor, Fresh or Frozen
Useful For
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity
Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies
Evaluating the prognosis for patients with malignant tumors
Testing Algorithm
DNA is extracted from the specimen prior to hybridization to the microarray.
Method Name
Chromosomal Microarray (CMA)
Reporting Name
Chromosomal Microarray, TumorSpecimen Type
VariesOrdering Guidance
This test is not performed on formalin-fixed, paraffin-embedded (FFPE) specimens. If testing is needed for FFPE specimens, order CMAPT / Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded.
If an FFPE specimen is submitted, this test will be canceled and CMAPT / Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded will be added and performed as the appropriate test.
Additional Testing Requirements
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A reason for testing must be provided for testing to be performed.
2. A pathology report should accompany the specimen. If this information is not available at the time of order, submit as soon as possible for appropriateness of testing and to aid in interpretation of results.
Specimen Required
Submit only 1 of the following specimens:
Supplies: Hank's Solution (T132)
Specimen Type: Tumor biopsy
Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline
Specimen Volume: 0.5-3 cm(3) or larger
Specimen Type: Lymph node
Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline.
Specimen Volume: 1 cm(3)
Specimen Type: Skin biopsy
Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline.
Specimen Volume: 4-mm diameter
Collection Instructions:
1. Wash biopsy site with an antiseptic soap.
2. Thoroughly rinse area with sterile water.
3. Do not use alcohol or iodine preparations.
4. A local anesthetic may be used.
5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.
Specimen Minimum Volume
Tumor biopsy: 3 cm(3); Lymph node: 1 cm(3); Skin biopsy: 4 mm diameter
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Reference Values
An interpretive report will be provided.
Interpretation
The interpretive report describes copy number changes and loss of heterozygosity that may be associated with the neoplastic process being evaluated. Abnormal clones with subclonal abnormalities will be discussed if identified.
The continual discovery and publication of novel copy number abnormalities and losses of heterozygosity associated with neoplastic processes means that the interpretation of any given detected abnormality may change with increased scientific understanding.
Although the presence of a clonal abnormality is usually associated with neoplasia, in some situations it may reflect a benign or constitutional genetic change. If a genetic change is identified that is likely constitutional and clearly pathogenic or likely pathogenic and/or related to the clinical reason for referral, this will be included in the report and follow-up with a medical genetic consultation may be suggested.
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 a point mutation that is not detectable by chromosomal microarray.
Chromosomal microarray, fluorescence in situ hybridization (FISH), and conventional cytogenetics are to some extent complementary methods. In some instances, additional FISH or conventional cytogenetic studies will be recommended to clarify interpretive uncertainties.
Clinical Reference
1. Mikhail FM, Biegel JA, Cooley LD, et al. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). Genet Med. 2019;21(9):1903-1916. doi:10.1038/s41436-019-0545-7
2. Chun K, Wenger GD, Chaubey A, et al. Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia. Cancer Genet. 2018;228-229:236-250. doi:10.1016/j.cancergen.2018.07.004
3. Shao L, Akkari Y, Cooley LD, et al. Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1818-1829. doi:10.1038/s41436-021-01214-w
Day(s) Performed
Monday through Sunday
Report Available
10 to 21 daysPerforming 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
81277
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CMAT | Chromosomal Microarray, Tumor | 94087-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 54729 | Result | 62356-1 |
| 54730 | Nomenclature | 62356-1 |
| 54728 | Result Summary | 50397-9 |
| 54731 | Interpretation | 69965-2 |
| CG905 | Reason for Referral | 42349-1 |
| 54743 | Specimen | 31208-2 |
| 54732 | Source | 31208-2 |
| 54733 | Method | 85069-3 |
| 53424 | Additional Information | 48767-8 |
| 54734 | Released By | 18771-6 |