Diagnosis of Primary Ciliary Dyskinesia

Publication Date: June 1, 2018
Last Updated: December 16, 2022

Diagnosis

In patients presenting with a strong clinical phenotype for PCD, the ATS suggests using an extended genetic panel (>12 genes) as a diagnostic test over TEM ciliary testing and/or standard (≤12 genes) genetic panel testing. (C, M)
620
In cooperative patients 5 years of age or older with a clinical phenotype consistent with PCD and with CF excluded, the ATS suggests using nNO testing with chemiluminescense technology and standardized protocol for the diagnosis of PCD over TEM and/or genetic testing. (C, M)
620
The ATS suggests NOT using ciliary beat pattern analysis by high-speed video microscopy (HSVM) as a replacement diagnostic test in patients with a high probability of having PCD. (C, L)
620
The ATS suggests NOT using ciliary beat frequency (CBF) measurement as a diagnostic test in patients with a high probability of having PCD. (, L)

conditional/weak recommendation

620

Recommendation Grading

Overview

Title

Diagnosis of Primary Ciliary Dyskinesia

Authoring Organization

American Thoracic Society

Publication Month/Year

June 1, 2018

Last Updated Month/Year

November 22, 2024

Document Type

Guideline

External Publication Status

Published

Country of Publication

US

Document Objectives

This document presents the American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD).

Target Patient Population

Adult and pediatric patients with primary ciliary dyskinesia (PCD)

Target Provider Population

Clinicians investigating adult and pediatric patients for possible PCD

Inclusion Criteria

Male, Female, Adolescent, Adult, Child, Infant

Health Care Settings

Ambulatory

Intended Users

Nurse, nurse practitioner, physician, physician assistant

Scope

Diagnosis

Diseases/Conditions (MeSH)

D020820 - Dyskinesias

Keywords

primary ciliary dyskinesia, Dyskinesia, PCD, Kartagener syndrome, situs inversus

Source Citation

Shapiro AJ, Davis SD, Polineni D et al. Diagnosis of Primary Ciliary Dyskinesia. Am J Respir Crit Care Med Vol 197, Iss 12, pp e24–e39, Jun 15, 2018.

Supplemental Methodology Resources

Data Supplement

Methodology

Number of Source Documents
169
Literature Search Start Date
September 1, 2015
Literature Search End Date
July 1, 2016