Whole Exome and Mitochondrial Genome Sequencing, Varies

Casandra

Casandra Test Code MC53162Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID WESMTCPT Codes 81415, 81416, 81460, 81465, 88233, 88240

Whole Exome and Mitochondrial Genome Sequencing, Varies

Clinical Use

Use

This test serves as a first-tier test to identify molecular and/or mitochondrial diagnoses in patients with suspected genetic disorders, improving the understanding of prognosis and enabling targeted management. It is also used for predictive testing of at-risk family members and for excluding disease in siblings or other relatives. As a second-tier test, it is used for patients with negative results from previous genetic testing, offering a potentially cost-effective alternative to multiple independent molecular assays.

Special Instructions

Specific paperwork is required for this test. To avoid delays, the Whole Exome Sequencing: Ordering Checklist must be completed for the family. For family member specimens sent as comparators, order CMPRE / Family Member Comparator Specimen for Exome Sequencing, Varies. Trio analysis is highly recommended, but testing for singletons, duos, and nontraditional trios is accepted if both biological parents are unavailable.

Limitations

The test does not support detection of deep intronic variants or trinucleotide repeat variants except within the mitochondrial genome. It cannot be used for identifying somatic variants in solid tumors, nor does it provide genotyping for pharmacogenomic purposes. Due to technical limitations, some gene regions may not be effectively evaluated, and not all types of genomic variants may be detected. Negative results do not conclusively rule out a genetic disorder.

Test Details

New York Approved