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

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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

Not provided.

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