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
March 7, 2024
Supplemental Implementation Tools
Document Type
Guideline
External Publication Status
Published
Country of Publication
US
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
Supplemental Methodology Resources
Methodology
Number of Source Documents
169
Literature Search Start Date
September 1, 2015
Literature Search End Date
July 1, 2016