Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.

ABSTRACT:

Rationale

The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unknown, and testing is not widely available outside the United States. Fluorescent antibodies to ciliary proteins are used to validate research genetic studies, but diagnostic utility in this disease has not been systematically evaluated.

Objectives

To determine utility of a panel of six fluorescent labeled antibodies as a diagnostic tool for PCD.

Methods

The study used immunofluore

SUBMITTER: Shoemark A 

PROVIDER: S-EPMC5519960 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature