Hereditary Non-Polyposis Colon Cancer-Lynch syndrome Sequencing

Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is a type of inherited cancer of the digestive tract, particularly the colon and rectum. People with Lynch syndrome have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with this disorder also have a high risk of cancer of the endometrium and ovaries.

Variations in the MLH1, MSH2, MSH6, and PMS2 genes increase the risk of developing Lynch syndrome. All of these genes are involved in the repair of mistakes made when DNA is copied in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors. This disorder is an autosomal dominant genetic condition.

We provide sequencing for MLH1, MSH2 and MSH6.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 153.0/154.1

Test Requisition: Sequencing Requisition

MLH1 CPT Code: 81292 

MSH2 CPT Code: 81295

CPT Code: 81298

Cost: $1133.00 each test. If sequencing all three genes total cost $1713.00

Turn-around-time: 5-6 weeks