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HelpTest Code CMAFF Chromosomal Microarray (CMA) Familial Testing, FISH
Reporting Name
CMA Familial Testing, FISHUseful For
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
| 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
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
Fluorescence In Situ Hybridization (FISH)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole bloodOrdering 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.
Specimen Required
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.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | ||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Special Instructions
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
CPT Code Information
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)Â Â Â Â Â Â Â Â
88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CMAFF | CMA Familial Testing, FISH | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 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 |
| 55129 | Additional Information | 48767-8 |
| 53403 | Disclaimer | 62364-5 |
| 52411 | Released By | 18771-6 |
Clinical Information
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.
Interpretation
An interpretive report will be provided.
Cautions
The results of this test may be of uncertain clinical significance.
Clinical Reference
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
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)