Outcome of ABCA4 microarray screening in routine clinical practice.

ABSTRACT:

Purpose

To retrospectively analyze the clinical characteristics of patients who were screened for mutations with the ATP-binding cassette transporter gene ABCA4 (ABCA4) microarray in a routine clinical DNA diagnostics setting.

Methods

We performed a retrospective analysis of the medical charts of 65 patients who underwent an ABCA4 microarray screening between the years 2002 and 2006. An additional denaturing gradient gel electrophoresis (DGGE) was performed in these patients if less than two mutations were found with the microarray. We included all patients who were suspected of autosomal recessive Stargardt disease (STGD1), autosomal recessive cone-rod dystrophy (arCRD), or autosomal recessive retinitis pigmentosa at the time of microarray request. After a retrospective ana

SUBMITTER: Ernest PJ 

PROVIDER: S-EPMC2796636 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature