Laboratory Diagnosis of Cystic Fibrosis

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Author: Vicky LeGrys, DA, MT(ASCP)
Reviewer: Rebecca J. Laudicina, PhD, MLS(ASCP)CM

This course discusses the clinical presentation of cystic fibrosis (CF) and how genetic mutations can lead to the manifestation of the disorder. Laboratory testing used in the diagnosis of CF is presented including the components of a quantitative sweat chloride test. Finally, current treatment options for the disease are discussed.

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Continuing Education Credits

P.A.C.E.® Contact Hours: 1 hour(s)
Florida Board of Clinical Laboratory Science CE - General (Clinical Chemistry/UA/Toxicology): 1 hour(s)

Objectives

Describe the clinical presentation of cystic fibrosis (CF).
Describe how mutations in the CF gene lead to the clinical manifestations of the disorder.
Outline the laboratory diagnosis of CF to include newborn screening, the sweat test, and DNA testing.
Describe the components of a quantitative sweat chloride test to include reference ranges.
Compare screening sweat tests to confirmatory sweat tests.
Discuss the current treatment options for CF.

Course Outline

Introduction to Cystic Fibrosis

Course Introduction

The History of CF

History of CF and Diagnostic Testing

Pathophysiology of CF

Pathophysiology of CF
Mutations of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)
CF is due to a defect in a protein which functions as a(n):

Clinical Presentation

Overview of Clinical Characteristics
Pulmonary Disease
Pancreatic Disease
Sweat Gland Involvement
Gastrointestinal and Liver Disease
Reproductive System
Which of the following pathogens is associated with CF pulmonary disease?
Which of the following statements concerning the sweat of patients with CF is TRUE?

Laboratory Diagnosis of CF

Laboratory Diagnosis of CF
Newborn Screening (NBS) in the United States
DNA Testing
Why do patients with a positive newborn screening test for CF require confirmation of the diagnosis?

Sweat Testing

Sweat Testing
Sweat Stimulation
Sweat Collection
Collecting An Adequate Sweat Sample
Quantitative Sweat Analysis
Screening Tests for Sweat
Reference Intervals for Sweat Chloride
Reference Intervals for Sweat Conductivity
Quality Assurance for Sweat Testing
CF is the only disorder that will result in increased sweat chloride concentrations.
When performing sweat testing for CF diagnosis, how long is sweat stimulated by iontophoresis and how long is it collected?

Treatment

Treatment
Treating the Symptoms
Treating the Protein Defect
Gene Replacement
Which of the following statements are TRUE concerning medications that treat the protein defect in CF?

Summary

Summary

References

References

Additional Information

Level of instruction: Intermediate

Intended Audience: Medical laboratory scientists, medical technologists, and technicians. This course is also appropriate for medical laboratory science students and pathology residents.

Author information: Vicky LeGrys, DA, MT(ASCP) is a professor in the Division of Clinical Laboratory Science in the School of Medicine at the University of North Carolina Chapel Hill where she is responsible for the lecture and laboratory courses in Biochemistry, Clinical Chemistry, and Quality Assurance. She holds a Doctorate of Arts and a Master of Science in Medical Technology from Catholic University of America, Washington DC with a major in Clinical Chemistry.

Reviewer information: Rebecca J. Laudicina, PhD, MLS(ASCP)^CM is Professor Emeritus in the Division of Clinical Laboratory Science at The University of North Carolina at Chapel Hill’s School of Medicine. She obtained a Master of Education and PhD in Educational Psychology from Temple University. She is the author of numerous hematology-related publications.

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