Li-Fraumeni syndrome Sequencing

Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. The syndrome is linked to germline mutations of the p53 tumor suppressor gene. Mutations can be inherited or can arise de novo early in embryogenesis or in one of the parent's germ cells.

TP53 assists in repair or destruction of "bad" DNA before it can enter the normal cell cycle, thus preventing abnormal and/or cancerous growth of cells. Mutations of TP53 prevent this normal function and allow damaged cells to divide and grow in an uncontrolled, unchecked manner forming tumors. TP53 mutations have been primarily implicated in Li-Fraumeni syndrome. Chromosome locus of TP53 gene 17p13.1.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 code 758.3

Test Requisition: Sequencing Requisition

CPT Code: 81405 Cost: $1193.00

Turn-around-time: 5-6 weeks