Laboratory Diagnosis of Cystic Fibrosis

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Author: Vicky LeGrys, DA, MLS(ASCP)
Reviewers: Laurie Bjerklie, MA, MLS(ASCP)CM and DeRhonda Crawford, MLS(ASCP)

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.

Continuing Education Credits

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
      • Introduction
  • The History of Cystic Fibrosis
      • History and Diagnostic Testing
  • Pathophysiology of Cystic Fibrosis
      • Pathophysiology
      • Mutations of Cystic Fibrosis Transmembrane Conductance Regulator
      • 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 not typically associated with CF pulmonary disease?
      • Which of the following statements concerning the sweat of patients with CF is true?
  • Laboratory Diagnosis of Cystic Fibrosis
      • Laboratory Diagnosis
      • Newborn Screening
      • 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
      • True or False: 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 is accurate 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 laboratory technicians, laboratory supervisors, and laboratory managers. This course is also appropriate for MLS and MLT students and pathology residents.
Author Information: Vicky LeGrys, DA, MLS(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 the Catholic University of America, Washington, D.C., with a major in Clinical Chemistry.
The author has no conflict of interest to disclose.
Reviewer Information:
DeRhonda Crawford, MLS(ASCP), is the chemistry supervisor at Gwinnett Medical Center in Lawrenceville, Georgia, and the technical supervisor for the Gwinnett Medical Center in Duluth, Georgia. She holds a BS in Medical Technology from the Medical College of Georgia.
Laurie Bjerklie, MA, MLS(ASCP)CM, is a Lead Education Developer. She earned a B.S. in Medical Laboratory Science from the University of North Dakota and an M.A. in Curriculum and Instruction from Saint Xavier University. She has over 15 years of experience in higher education and has held program director and faculty positions in both MLT and MLS programs.

This course is part of:
Compliance & CE
clinical characteristics
Sweat gland Normal CF
CFTR mutant
collection of sweat into macroduct_edit
digital chloridometer_edit