Custom Gene Panel, Hereditary

Casandra

Casandra Test Code MC73431Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CGPHCPT Codes 81165, 81166, 81167, 81162, 81201, 81216, 81218, 81223, 81249, 81252

Custom Gene Panel, Hereditary

Clinical Use

Order Test

Use

This test is useful for the customization of existing next-generation sequencing panels offered by Mayo Clinic Laboratories. It aids in the detection of single nucleotide and copy number variants in a custom gene panel. The identification of a pathogenic variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary conditions.

Special Instructions

This test requires the creation of a unique Gene List ID, which directs the laboratory to test the genes requested. A Gene List ID must be created using the Custom Gene Ordering Tool. Patients who have had a previous bone marrow transplant from an allogenic donor should not have testing performed on blood, bone marrow, or saliva as results will reflect the genome of the donor. Testing on patients with active hematologic malignancies may identify both somatic mutations and germline variants, resulting in test failure or necessitating follow-up testing.

Limitations

Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur, and the depth of coverage may be variable for some target regions. Negative results do not rule out a genetic disorder. There may be regions of genes that are difficult to amplify due to technical limitations. The test may not detect low levels of mosaicism or differentiate between somatic and germline variants effectively. If there is a possibility a detected variant is somatic, additional testing may be necessary.

Test Details

New York Approved