SRY gene deletion

The SRY gene is located on the short arm of the Y chromosome. This gene is necessary in male sex determination. It initiates the series of events that will assist in the development of the male testes. Mutations in SRY give rise to XY females with gonadal dysgenesis who appear to be normal females at birth, but at puberty do not develop secondary sexual characteristics, do not menstruate, and have fibrous gonads without eggs. Translocation of the part of the Y chromosome containing SRY to the X chromosome results in XX males -- individuals who have XX sex chromosomes but appear male.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 758.81

Test Requisition: Cytogenetics Requisition

CPT Codes: 88230, 88271, 88274, 88291 Cost: $655.00

Turn-around-time: 10-14 days