Test Catalog

Test Id : CMAFF

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Chromosomal Microarray (CMA) Familial Testing, FISH

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Overview

Test Catalog

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

Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_ML10 Metaphases, 1-9 No, (Bill Only) No
_M30 Metaphases, >=10 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

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

If the copy number change identified in a patient is below the level of resolution of FISH analysis, CMA studies will be required. In this circumstance, this test will be cancelled and CMACB / Chromosomal Microarray, Congenital, Blood will be performed.

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

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

Fluorescence In Situ Hybridization (FISH)

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

CMA Familial Testing, FISH

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

CMA follow up

Parental CMA follow up

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

If the copy number change identified in a patient is below the level of resolution of FISH analysis, CMA studies will be required. In this circumstance, this test will be cancelled and CMACB / Chromosomal Microarray, Congenital, Blood will be performed.

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Specimen Type
Describes the specimen type validated for testing

Whole blood

Ordering Guidance

This test is used to confirm the presence of a specific copy number change in a family member after it has been identified by chromosomal microarray (CMA) testing in a patient previously tested at Mayo Clinic Laboratories. All family member studies will be charged unless otherwise specified in the proband report.

 

Consultation with the laboratory is required prior to submitting a specimen when the initial patient (proband) was tested elsewhere. Whenever possible, family member testing should be performed by the original testing laboratory. If this is not possible, call 800-533-1710 and ask to speak with a laboratory genetic counselor to determine if testing will be accepted. Failure to contact the laboratory prior to ordering may result in test cancellation.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

Completion of the Family Member Phenotype Information for Genomic Testing form is required. The use of parental testing for the evaluation of uncertain copy number variants requires parental phenotypic information.

 

Clinical information on the family member being tested is essential for appropriate test interpretation and must be provided by the ordering clinician.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
CG781 Reason for Referral

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

Specimen Type: Whole blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.

Additional Information: Provide the name of the child (originally tested family member) on the request form. If testing was performed outside of Mayo Clinic Laboratories, consultation with the laboratory is required prior to ordering this test.

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

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

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
Whole blood Ambient (preferred)
Refrigerated

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

Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change

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

If the copy number change identified in a patient is below the level of resolution of FISH analysis, CMA studies will be required. In this circumstance, this test will be cancelled and CMACB / Chromosomal Microarray, Congenital, Blood will be performed.

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

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

Chromosomal microarray (CMA) is a method for detecting copy number changes (gains or losses) across the entire genome. When copy number changes are identified in a patient, parental studies are sometimes necessary to assess their clinical significance. Changes that are inherited from clinically normal parents are less likely to be clinically significant in the patient and de novo changes are more likely to be pathogenic.

 

To identify familial copy number changes in parents of previously tested patients, fluorescence in situ hybridization testing is utilized. the parental results will provide the context for interpretation of the patient's CMA results.

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

An interpretive report will be provided.

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

The results of this test may be of uncertain clinical significance.

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

1. Shaffer LG, Kashork CD, Saleki R, et al: Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr. 2006 Jul;149(1):98-102

2. Baldwin EL, Lee JY, Blake DM, et al: Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med. 2008 May;10:415-429

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

Fluorescence in situ hybridization using locus-specific probes targeted to the region of copy number gain or loss identified by the patient's chromosomal microarray testing. Ten metaphases and 200 interphase nuclei are analyzed to determine if the region is duplicated and 15 metaphases to determine if the region is deleted.(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.

9 to 28 days

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

Three months

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 account representative. 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. It 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.

88271x2, 88291-DNA probe, each (first probe set), Interpretation and report

88271x2-DNA probe, each; each additional probe set (if appropriate)

88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88273 w/modifier 52-Chromosomal in situ hybridization, less than 10 cells (if appropriate)

88273-Chromosomal in situ hybridization, 10-30 cells (if appropriate)

88274 w/modifier 52 Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)        

88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)

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
CMAFF CMA Familial Testing, FISH In Process
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.
52405 Result Summary 50397-9
52406 Result 62356-1
54644 Nomenclature 62378-5
52407 Interpretation 69965-2
CG781 Reason For Referral 42349-1
52408 Specimen 31208-2
52409 Source 31208-2
52410 Method 85069-3
52411 Released By 18771-6
55129 Additional Information 48767-8
53403 Disclaimer 62364-5

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