Test Catalog

Test Id : CMAH

Chromosomal Microarray, Hematologic Disorders, Varies

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

Detection and characterization of clonal copy number imbalance and loss of heterozygosity associated with hematologic neoplasms

 

Assisting in the diagnosis and classification of certain hematologic neoplasms

 

Evaluating the prognosis for patients with certain hematologic neoplasms

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

DNA extraction is always performed on the specimen prior to hybridization to the microarray. An unstimulated cell culture will be set up on all specimens with adequate volume and held pending additional testing. If additional testing is requested, such as karyotype analysis or fluorescence in situ hybridization, it will be performed at an additional charge.

 

The following algorithms are available:

-Aggressive B-cell Lymphoma Diagnostic Algorithm

-B-Lymphoblastic Leukemia/Lymphoma Algorithm

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

Method Name
A short description of the method used to perform the test

Chromosomal Microarray (CMA) Using Applied Biosystems (Affymetrix) Cytoscan HD

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Chromosomal Microarray, Hematologic

Aliases
Lists additional common names for a test, as an aid in searching

aCGH

Array CGH

Array Comparative Genomic Hybridization

Oligonucleotide Array

Oligo Array

Single Nucleotide Polymorphism (SNP) Array

Whole Genome Array

Microarray

CytoScan

Hematology Array

Hematologic Array

Heme Array

Loss of Heterozygosity (LOH)

Copy Neutral Loss of Heterozygosity (cnLOH)

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

DNA extraction is always performed on the specimen prior to hybridization to the microarray. An unstimulated cell culture will be set up on all specimens with adequate volume and held pending additional testing. If additional testing is requested, such as karyotype analysis or fluorescence in situ hybridization, it will be performed at an additional charge.

 

The following algorithms are available:

-Aggressive B-cell Lymphoma Diagnostic Algorithm

-B-Lymphoblastic Leukemia/Lymphoma Algorithm

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test is not appropriate for detecting constitutional/congenital copy number changes or regions of excessive homozygosity. If this test is ordered with a reason for testing indicating a constitutional/congenital disorder, the test will be canceled and CMACB / Chromosomal Microarray, Congenital, Blood will be performed as the appropriate test.

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.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
CG902 Reason for Referral
CG903 Specimen

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:

 

Specimen Type: Bone marrow

Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA)

Specimen Volume: 1-2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA)

Specimen Volume: 7-10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

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

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen. 

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood: 2 mL

Bone marrow: 1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

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

Detection and characterization of clonal copy number imbalance and loss of heterozygosity associated with hematologic neoplasms

 

Assisting in the diagnosis and classification of certain hematologic neoplasms

 

Evaluating the prognosis for patients with certain hematologic neoplasms

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

DNA extraction is always performed on the specimen prior to hybridization to the microarray. An unstimulated cell culture will be set up on all specimens with adequate volume and held pending additional testing. If additional testing is requested, such as karyotype analysis or fluorescence in situ hybridization, it will be performed at an additional charge.

 

The following algorithms are available:

-Aggressive B-cell Lymphoma Diagnostic Algorithm

-B-Lymphoblastic Leukemia/Lymphoma Algorithm

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

The importance of identifying chromosome abnormalities in hematologic disorders is well established and often provides important diagnostic, prognostic, and therapeutic information critical to proper patient management. Although many chromosomal abnormalities are large enough to be detected with conventional chromosome analysis, many others are below its limits of resolution, and conventional chromosome analysis does not detect copy-neutral loss of heterozygosity.

 

Chromosomal microarray (CMA) improves the diagnostic yield to identify genetic changes that are not detected by conventional chromosome analysis or fluorescence in situ hybridization (FISH) studies. CMA utilizes greater than 1.9 million copy number probes and approximately 750,000 single nucleotide polymorphism probes to detect copy number changes and regions of copy-neutral loss of heterozygosity.

 

CMA analysis is appropriate to identify gain or loss of chromosome material throughout the genome at a resolution of 30 to 60 kilobases. CMA can do the following:

-Define the size, precise breakpoints, and gene content of copy number changes to demonstrate the complexity of abnormalities

-Characterize unidentified chromosome material, marker chromosomes, and DNA amplification detected by conventional chromosome and FISH studies

-Determine if apparently balanced chromosome rearrangements identified by conventional chromosome studies have cryptic imbalances

-Assess regions of copy-neutral loss of heterozygosity, which is common in neoplasia and often masks homozygous mutations involving tumor suppressor genes

 

The limit of detection is dependent on size of the abnormality, type of abnormality (deletion or duplication) and DNA quality. When a deletion or duplication exceeds the reporting limits, mosaicism can confidently be detected as low as 25% and may be lower if the abnormality is large and DNA quality is good.

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 interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

The interpretive report describes copy number changes and any loss of heterozygosity that may be associated with the neoplastic process. Abnormal clones with subclonal cytogenetic evolution will be discussed if identified.

 

The continual discovery of novel copy number variation and published clinical reports means that the interpretation of any given copy number change may evolve with increased scientific understanding.

 

Although the presence of a clonal abnormality usually indicates a 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 (eg, XYY), consultation with a Clinical Geneticist 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 (CMA).

 

CMA, 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.

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

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.

 

This test does not detect balanced chromosome rearrangements such as reciprocal translocations, inversions, or balanced insertions.

 

This test does not detect point variants, small deletions or insertions below the resolution of the assay, or other types of variants such as epigenetic changes.

 

Low level abnormal clones may not be detected by this test; as such it is not recommended for minimal residual disease.

 

This test does not identify tetraploidy, although in concert with other studies tetraploidy can be inferred.

 

The results of this test may reveal incidental findings not related to the original reason for testing.

Supportive Data

The chromosomal microarray was validated on the Affymetrix CytoScan HD platform in a blinded study of 30 specimens from a variety of hematologic disorders. Results were correlated to previous conventional karyotype and fluorescence in situ hybridization analysis.

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

1. Cooley L, Lebo M, Li M, et al: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. Genet Med. 2013 Jun;15(6):484-494

2. Dougherty M, Wilmoth D, Tooke L, et al: Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer Genetics. 2011 Jan;204(1):26-38

3. Schwartz, S: Clinical Utility of Single Nucleotide Polymorphism Arrays. Clin Lab Med. 2011 Dec;31(4):581-594

4. Braggio E, Kay N, VanWier S, et al: Longitudinal genome-wide analysis of patients with chronic lymphocytic leukemia reveals complex evolution of clonal architecture at disease progression and at the time of relapse. Leukemia. 2012 Jul;26(7):1698-1701

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

Method Description
Describes how the test is performed and provides a method-specific reference

DNA extracted from the patient's bone marrow or peripheral blood is labeled and hybridized to the microarray. Following hybridization, the microarray is scanned, and the intensity of signals is measured and compared to a reference data set. These data are used to determine copy number changes and regions with loss of heterozygosity. Chromosomal microarray data alone do not provide information about the structural nature of an imbalance. Thus, it may be of benefit to utilize fluorescence in situ hybridization or additional techniques to further characterize a patient sample.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

8 to 21 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

4 weeks

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81277

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CMAH Chromosomal Microarray, Hematologic 94087-4
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
54721 Result Summary 50397-9
54722 Result 62356-1
54723 Nomenclature 62378-5
54724 Interpretation 69965-2
CG902 Reason For Referral 42349-1
CG903 Specimen 31208-2
54725 Source 31208-2
54726 Method 85069-3
53423 Additional Information 48767-8
54727 Released By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports