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Test Catalog

Test ID: CMAFF    
Chromosomal Microarray (CMA) Familial Testing, FISH

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

Advisory Information

This test is only 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.

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 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

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 TypeTemperatureTimeSpecial Container
Whole bloodAmbient (preferred)
 Refrigerated