Hereditary Expanded Cancer Panel, Varies

Casandra

Casandra Test Code MC34539Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID XCPCPT Codes 81403, 81292, 81295, 81298, 81162, 81201, 81307, 81317, 81321, 81351, 81404, 81405, 81406, 81407, 81408, 81479

Hereditary Expanded Cancer Panel, Varies

Clinical Use

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Use

This test is intended for evaluating hereditary cancer in individuals with a personal or family history that suggests a hereditary cancer syndrome. It analyzes 87 genes linked to various hereditary cancer syndromes to identify genetic variants associated with increased cancer risk. Identification of these variants aids in diagnosis, allows for targeted cancer surveillance, predictive testing, and screening of at-risk family members. The test is also useful for determining therapeutic eligibility with PARP inhibitors in tumors having specific gene alterations like BRCA1 and BRCA2.

Special Instructions

Not provided.

Limitations

This test may not detect all genomic variants. Technical limitations may affect the accuracy and depth of coverage for some regions. Detection of deletions insertions larger than 40 bp, false negatives, and false positives are possible under certain conditions. Single exon deletions/duplications and low levels of mosaicism may not be detected, and distinguishing between somatic and germline variants is limited.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (87 genes)

AIPALKAPCATMAXIN2BAP1BARD1BLMBMPR1ABRCA1BRCA2BRIP1BUB1BCDC73CDH1CDK4CDKN1BCDKN2ACHEK2CTNNA1DICER1DIS3L2EGFRELP1EPCAMEXT1EXT2FANCAFHFLCNGPC3GREM1HOXB13KITLZTR1MAXMC1RMEN1METMITFMLH1MLH3MSH2MSH3MSH6MUTYHNBNNF1NF2NTHL1PALB2PDGFRAPHOX2BPMS2POLD1POLEPOT1PRKAR1APTCH1PTENRAD51BRAD51CRAD51DRB1RECQL4RESTRETRNF43SDHASDHAF2SDHBSDHCSDHDSMAD4SMARCA4SMARCB1SMARCE1STK11SUFUTMEM127TP53TRIP13TSC1TSC2VHLWRNWT1