Family Member Comparator Specimen for Exome Sequencing, Varies

Casandra

Casandra Test Code MC96014Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CMPRE

Family Member Comparator Specimen for Exome Sequencing, Varies

Clinical Use

Use

This test is used to submit a biological family member's specimen as a comparator for affected patients (probands) undergoing whole exome sequencing (WES). It assists in interpreting inherited genetic variants found in the proband and helps determine if these variants segregate with a phenotype in the family. By analyzing samples from both biological parents, the chance of identifying a diagnosis in the proband is increased, as comparator samples from family members enhance the diagnostic capability of the WES.

Special Instructions

This test must be ordered for biological family member comparator specimens only, not for affected probands. If ordered for a proband, it will be canceled and replaced with WESDX. Each specimen must have a separate order, and family members will not be charged separately as costs are applied to the proband's test.

Limitations

Whole blood from an allogenic donor can interfere with test results. Saliva and blood spot specimens may provide lower quality DNA, potentially impacting performance. Certain gene regions may not be effectively evaluated due to assay limitations like homology and high GC content. If DNA quality is inadequate, additional specimens may be required, and DNA quality will be noted in the report if issues arise.

Test Details

New York Approved