Family Member Comparator Specimen for Genome Sequencing, Varies

Casandra

Casandra Test Code MC19737Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CMPRG

Family Member Comparator Specimen for Genome Sequencing, Varies

Clinical Use

Use

This test is used for submitting biological family member specimens as comparators for affected patients undergoing whole genome sequencing. It helps determine the inheritance of genetic variants identified and if they segregate with a phenotype in the family. The assay is most informative when samples from both biological parents are used as comparators, which increases the chance of identifying a diagnosis in the proband.

Special Instructions

This test is intended for biological family member comparator specimens only and not for affected patients (probands) undergoing whole genome sequencing. If ordered incorrectly on a proband, the test will be canceled and the appropriate WGS test will be performed instead. Each specimen must be on a separate order, and specific family members' specimens are required for comparator analysis.

Limitations

The test results will only be provided in the context of the proband's whole genome sequencing report. Variants present in family member comparator samples but absent from the proband sample are not evaluated or reported. Technical limitations may prevent some regions of genes from being effectively evaluated due to homology, variable depth of coverage, and repetitive sequences. Unexpected genetic information about family members may be revealed.

Test Details

New York Approved