DiGeorge syndrome (II) 10p14

This is a rare genetic syndrome characterized by facial anomalies, congenital heart defects, T-cell immune defects, hypoparathyroid/ hypocalcemia and mental retardation. DGS2 is associated with a partial deletion of the short arm of chromosome 10. Patients with this deletion have many of the same conditions as patients with DGS1 del 22q11.2.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 279.11or 758.5 for congenital anomaly

Test Requisition: Cytogenetics Requisition

CPT Codes: 88271, 88274, 88291 Cost: $325.00

Turn-around-time for blood: 5-7 days

Turn-around-time for amnio: 2 days