Hamartoma Tumor syndrome Sequencing

PTEN (phosphate and tensin homolog) gene is a human gene that acts as a tumor suppressor. A mutation of this gene can predispose a patient to cancer. Frequent genetic inactivation of PTEN occurs in glioblastoma, endometrial cancer, and prostrate cancer. A mutation of PTEN can also lead to vascular anomalies such as arteriovenuous malformation or haemangioma. Autism and macrocephaly have also been seen in patients with the PTEN anomaly.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 759.6

Test Requisition: Sequencing Requisition

CPT Code: 81321 full gene sequence Cost: $978.00

CPT Code: 81322 know familial variant Cost: $333.00

Turn-around-time: 3-4 weeks