Lynch Syndrome Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR45088Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001605CPT Codes 81292, 81294, 81295, 81297, 81298, 81300, 81317, 81319, 81403

Lynch Syndrome Panel, Sequencing and Deletion/Duplication

Also known as: LS NGS

Clinical Use

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Use

The Lynch Syndrome Panel, Sequencing and Deletion/Duplication is recommended to confirm a diagnosis of Lynch syndrome (LS) for individuals with a personal and/or family history consistent with LS. Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a hereditary cancer syndrome that predisposes individuals to colorectal, endometrial, ovarian, stomach, small bowel, and other cancers. LS is the most common hereditary colorectal cancer (CRC) syndrome, affecting approximately 1 in 279 individuals in the general population.

Special Instructions

Not provided.

Limitations

This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Deletions/duplications/insertions of any size may not be detected by massively parallel sequencing. Regulatory region variants and deep intronic variants will not be identified. Diagnostic errors can occur due to rare sequence variations, and in some cases, variants may not be identified due to technical limitations caused by the presence of pseudogenes, repetitive, or homologous regions. This test does not detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) variants, or repeat expansions.

Test Details