Whole Genome Sequencing for Hereditary Disorders, Varies

Casandra

Casandra Test Code MC41178Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID WGSDXCPT Codes 81425, 81426, 88233, 88240

Whole Genome Sequencing for Hereditary Disorders, Varies

Clinical Use

Use

Whole genome sequencing serves as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders. It provides a comprehensive understanding of the natural history, prognosis, targeted management, and predictive testing of at-risk family members. It also serves as a second-tier test for negative previous genetic tests and is cost-effective compared to multiple independent assays.

Special Instructions

This test requires specific paperwork to proceed with testing. To avoid delays, fill out and submit the Whole Genome Sequencing: Ordering Checklist. One form should be submitted for the family. For family member specimens as comparators, order CMPRG / Family Member Comparator Specimen.

Limitations

Whole genome sequencing may not detect all genomic variants, and technical limitations include variable depth of coverage, homology regions, and repetitive sequences. False-negative results are possible, and additional testing may be needed for specific disorders if clinical suspicion exists. Prenatal specimens are not accepted, and this test is not appropriate for somatic variant identification in solid tumors or other malignancies.

Test Details

New York Approved

Methodology

NGS (WGS)

Biomarkers

Whole genome sequencing is performed using next-generation sequencing technology, providing comprehensive coverage of the genome to detect a wide range of variants. Trio or family-based analysis is recommended for optimal interpretation.

Whole Genome Sequencing • WGS