Whole Exome Sequencing Comparator - Mother

Casandra

Casandra Test Code LC30721Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 620192CPT Code 81416

Whole Exome Sequencing Comparator - Mother

Clinical Use

Use

Whole exome sequencing (WES) is a genetic test used to identify a hertiable cause of disorder. This test should be used in cases of WES DUO or TRIO sequencing where the mother can be used as a comparator to inform the diagnosis of the proband.

Special Instructions

This test uses specimens collected from the mother of the patient involved in Whole Exome Sequencing - DUO (Proband) or Whole Exome Sequencing - TRIO (Proband) as part of the comparative analysis. Ensure correct labeling and adherence to collection instructions.

Limitations

This assay may not detect mosaicism consistently or rule out large chromosomal aberrations such as rearrangements and inversions that do not alter copy number. Repeat expansions, sex chromosome anomalies, and the implications of pseudogenes or homologous regions might not be detected. Results may suffer false positives/negatives due to limited available information on rare variants, somatic or tissue-specific mosaicism, or misidentification of family relations. The clinical significance interpretation of gene variations depends on the variant data and clinical information supplied when conducting the test. Note that these interpretations might change over time as further genetic information becomes available.

Test Details