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26452 Chromosomal Microarray (CMA) Familial Testing, FISH

Chromosomal Microarray (CMA) Familial Testing, FISH
Test Code: CMAFFSO
Synonyms/Keywords

​Chromosomal Microarray Familial, FISH (CMAFF), Chromosomal Microarray (CMA) Familial Testing, Fish (CMAFF), CMAFFSO, CMA follow up, Parental CMA follow up 

Useful 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

Specimen Requirements
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)		Pediatric Minimum Volume
(no repeat)
​​Whole blood​Green Top Tube (Sodium Heparin)​​4 mL​1 mL​
Collection Processing Instructions

​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.

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 Stability Information
Specimen TypeTemperature
Whole Blood​ ​​Ambient (preferred)
​Refrigerated
Rejection Criteria

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

Interference

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

Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​9-28 Days​Fluorescence In Situ Hybridization (FISH)
Reference Lab
Mayo Clinic Laboratories
Test 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, FISH testing is utilized. The parental results will provide the context for interpretation of the patient's CMA results.

Reference Range Information
Performing LocationReference Range
Mayo Clinic Laboratories​​An interpretive report will be provided.
Interpretation

​An interpretive report will be provided.

Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments
​88271​​2​DNA probe, each (first probe set)​
​88291​​1​Interpretation and report​
​88271​​2​DNA probe, each; each additional probe set​if appropriate
​88271​​1​DNA probe, each; coverage for sets containing 3 probes​if appropriate
​88271​​2​DNA probe, each; coverage for sets containing 4 probes​if appropriate
​88271​​3​DNA probe, each; coverage for sets containing 5 probes​if appropriate
​88273​52​1​Chromosomal in situ hybridization, less than 10 cells​if appropriate
​88273​​1​​Chromosomal in situ hybridization, 10-30 cells​if appropriate
​88274​52​1​Interphase in situ hybridization, <25 cells, each probe set​if appropriate
​88274​​1​Interphase in situ hybridization 25 to 99 cells, each probe set​if appropriate
​88275​​1​Interphase in situ hybridization, 100 to 300 cells, each probe set​if appropriate
Synonyms/Keywords

​Chromosomal Microarray Familial, FISH (CMAFF), Chromosomal Microarray (CMA) Familial Testing, Fish (CMAFF), CMAFFSO, CMA follow up, Parental CMA follow up 

Ordering Applications
Ordering ApplicationDescription
​COM​Chromosomal Microarray Familial, FISH (CMAFF)
​Cerner​Chromosomal Microarray (CMA) Familial Testing, Fish (CMAFF)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)		Pediatric Minimum Volume
(no repeat)
​​Whole blood​Green Top Tube (Sodium Heparin)​​4 mL​1 mL​
Collection Processing

​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.

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 Stability Information
Specimen TypeTemperature
Whole Blood​ ​​Ambient (preferred)
​Refrigerated
Rejection Criteria

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

Interference

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

Useful 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

Reference Range Information
Performing LocationReference Range
Mayo Clinic Laboratories​​An interpretive report will be provided.
Interpretation

​An interpretive report will be provided.

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​9-28 Days​Fluorescence In Situ Hybridization (FISH)
Reference Lab
Mayo Clinic Laboratories
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments
​88271​​2​DNA probe, each (first probe set)​
​88291​​1​Interpretation and report​
​88271​​2​DNA probe, each; each additional probe set​if appropriate
​88271​​1​DNA probe, each; coverage for sets containing 3 probes​if appropriate
​88271​​2​DNA probe, each; coverage for sets containing 4 probes​if appropriate
​88271​​3​DNA probe, each; coverage for sets containing 5 probes​if appropriate
​88273​52​1​Chromosomal in situ hybridization, less than 10 cells​if appropriate
​88273​​1​​Chromosomal in situ hybridization, 10-30 cells​if appropriate
​88274​52​1​Interphase in situ hybridization, <25 cells, each probe set​if appropriate
​88274​​1​Interphase in situ hybridization 25 to 99 cells, each probe set​if appropriate
​88275​​1​Interphase in situ hybridization, 100 to 300 cells, each probe set​if appropriate
For most current information refer to the Marshfield Laboratory online reference manual.