Whole Exome Sequencing Comparator - Additional FM

Casandra

Casandra Test Code LC71205Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 620194CPT Code 81416

Whole Exome Sequencing Comparator - Additional FM

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 parental samples are unavailable and an additional family member can be used as a comparator to inform the diagnosis of the proband.

Special Instructions

This test requires a specimen collected from a non-parental relative of the patient for whom Whole Exome Sequencing - DUO (Proband) or TRIO (Proband) is being ordered. Special instructions include the use of standard phlebotomy for whole blood collection and kit instructions for oral swab collection. Customers should contact MNG Genetic Services for instructions regarding extracted DNA.

Limitations

This NGS-based assay is unable to consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not alter copy number. It does not detect repeat expansions, and there is potential for false positives or negatives due to factors such as insufficient information about rare variants, sex chromosome abnormalities, pseudogene interference, homologous regions, and mosaicism or heteroplasmy. The interpretation of genetic variants is dependent on the quality and quantity of clinical data provided, and the understanding of clinical significance can evolve over time.

Test Details