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.

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.