Costello syndrome Sequencing


Mutations in the HRAS gene cause Costello syndrome. The HRAS gene provides instructions for making proteins that help control cell growth and division. Mutations that cause Costello syndrome lead to the production of an HRAS protein that is permanently active. Instead of triggering cell growth in response to particular signals from outside the cell, the overactive protein directs cells to grow and divide constantly. This unchecked cell division may predispose a patient to the development of benign and malignant tumors. Small growths called papillomas are the most common noncancerous tumors seen with this condition. They usually develop around the nose and mouth or near the anus. The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma.

Costello syndrome is inherited in an autosomal dominant manner, which means one copy of the altered gene is sufficient to cause the disorder.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 758.9

Test Requisition: Sequencing Requisition

CPT Code: 81404 Cost: $548.00

Turn-around-time: 3-4 weeks