Introduction to molecular cystic fibrosis testing.

Timothy S. Uphoff, W Edward Jr. Highsmith

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Technology improvements are rapidly bringing molecular diagnostics into routine laboratories. Recent recommendations for cystic fibrosis carrier testing by the American College of Medical Genetics (ACMG) have led to commercial test kit development and increased testing volumes. Molecular testing of genetic diseases presents a variety of challenges and situations that may be unfamiliar to laboratories with limited molecular genetic experience. We will briefly review the disease and discuss mutation testing indications, methodologies, quality assurance, and reporting issues associated with cystic fibrosis testing.

Original languageEnglish (US)
Pages (from-to)24-31
Number of pages8
JournalClinical laboratory science : journal of the American Society for Medical Technology.
Volume19
Issue number1
StatePublished - Dec 2006

Fingerprint

Cystic Fibrosis
Molecular Biology
Inborn Genetic Diseases
Molecular Pathology
Testing
Technology
Mutation
Quality assurance

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Introduction to molecular cystic fibrosis testing. / Uphoff, Timothy S.; Highsmith, W Edward Jr.

In: Clinical laboratory science : journal of the American Society for Medical Technology., Vol. 19, No. 1, 12.2006, p. 24-31.

Research output: Contribution to journalArticle

@article{c31173063d114897b94f98c23b338477,
title = "Introduction to molecular cystic fibrosis testing.",
abstract = "Technology improvements are rapidly bringing molecular diagnostics into routine laboratories. Recent recommendations for cystic fibrosis carrier testing by the American College of Medical Genetics (ACMG) have led to commercial test kit development and increased testing volumes. Molecular testing of genetic diseases presents a variety of challenges and situations that may be unfamiliar to laboratories with limited molecular genetic experience. We will briefly review the disease and discuss mutation testing indications, methodologies, quality assurance, and reporting issues associated with cystic fibrosis testing.",
author = "Uphoff, {Timothy S.} and Highsmith, {W Edward Jr.}",
year = "2006",
month = "12",
language = "English (US)",
volume = "19",
pages = "24--31",
journal = "Journal of Medical Technology",
issn = "0894-959X",
publisher = "American Society for Clinical Laboratory Science",
number = "1",

}

TY - JOUR

T1 - Introduction to molecular cystic fibrosis testing.

AU - Uphoff, Timothy S.

AU - Highsmith, W Edward Jr.

PY - 2006/12

Y1 - 2006/12

N2 - Technology improvements are rapidly bringing molecular diagnostics into routine laboratories. Recent recommendations for cystic fibrosis carrier testing by the American College of Medical Genetics (ACMG) have led to commercial test kit development and increased testing volumes. Molecular testing of genetic diseases presents a variety of challenges and situations that may be unfamiliar to laboratories with limited molecular genetic experience. We will briefly review the disease and discuss mutation testing indications, methodologies, quality assurance, and reporting issues associated with cystic fibrosis testing.

AB - Technology improvements are rapidly bringing molecular diagnostics into routine laboratories. Recent recommendations for cystic fibrosis carrier testing by the American College of Medical Genetics (ACMG) have led to commercial test kit development and increased testing volumes. Molecular testing of genetic diseases presents a variety of challenges and situations that may be unfamiliar to laboratories with limited molecular genetic experience. We will briefly review the disease and discuss mutation testing indications, methodologies, quality assurance, and reporting issues associated with cystic fibrosis testing.

UR - http://www.scopus.com/inward/record.url?scp=33646440910&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33646440910&partnerID=8YFLogxK

M3 - Article

C2 - 16617555

AN - SCOPUS:33646440910

VL - 19

SP - 24

EP - 31

JO - Journal of Medical Technology

JF - Journal of Medical Technology

SN - 0894-959X

IS - 1

ER -