Test Samples and Laboratory Protocols

S. Annie Adams, Daniel L. Van Dyke, Rhett P. Ketterling, Erik C. Thorland, Timothy Caulfield, Lorraine Sheremeta, E. Richard Gold, Jon F. Merz, David Castle

Research output: Chapter in Book/Report/Conference proceedingChapter


Clinicians need to be aware of the indications and arrangements necessary for appropriate specimen collection and submission to supporting laboratory services. General indications and testing considerations for cytogenetics, biochemical genetics, and molecular diagnostics are discussed including laboratory accreditation, the use of research laboratories in clinical care, the use of research specimens for clinical care, consent for specimen archiving, and the impact of human gene patents on clinical laboratory testing services. The importance of reviewing new test indications, repeat testing with updated and more accurate technologies, laboratory reporting standards, clinical implementation of test results, and medico-legal issues, are illustrated by case discussions.

Original languageEnglish (US)
Title of host publicationGenetic Testing
Subtitle of host publicationCare, Consent, and Liability
PublisherJohn Wiley & Sons, Inc.
Number of pages48
ISBN (Print)0471649872, 9780471649878
StatePublished - Jan 4 2006


  • Accreditation
  • Archiving
  • Biochemical genetics
  • Chromosomal abnormality
  • Cytogenetic
  • DNA chips
  • Diagnostic
  • Duty of care
  • Duty to timely report
  • Fluorescence in situ hybridization technology (FISH)
  • Gene patent
  • Health policy
  • Karyotype
  • Klinefelter syndrome
  • Medical malpractice
  • Microarrays
  • Molecular diagnostics
  • Neonatal cytogenetics
  • Pediatric cytogenetics
  • Prenatal diagnosis
  • Quality assurance
  • Quality management

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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