False-positive results of genetic testing in cystic fibrosis

W. S. Warren; A. Hamosh; M. Egan; B. J. Rosenstein

doi:10.1016/S0022-3476(97)70255-5

False-positive results of genetic testing in cystic fibrosis

W. S. Warren, A. Hamosh, M. Egan, B. J. Rosenstein

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Abstract

We describe a patient in whom newborn immunoreactive trypsin screening and mutation analysis suggested a diagnosis of cystic fibrosis; however, the clinical course and sweat test results were not consistent with the diagnosis. Direct sequencing of the patient's genomic DNA showed compound heterozygosity for ΔF508 and F508C, a polymorphism not associated with clinical disease.

Original language	English (US)
Pages (from-to)	658-660
Number of pages	3
Journal	Journal of Pediatrics
Volume	130
Issue number	4
DOIs	https://doi.org/10.1016/S0022-3476(97)70255-5
State	Published - 1997
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(97)70255-5

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title = "False-positive results of genetic testing in cystic fibrosis",

abstract = "We describe a patient in whom newborn immunoreactive trypsin screening and mutation analysis suggested a diagnosis of cystic fibrosis; however, the clinical course and sweat test results were not consistent with the diagnosis. Direct sequencing of the patient's genomic DNA showed compound heterozygosity for ΔF508 and F508C, a polymorphism not associated with clinical disease.",

author = "Warren, {W. S.} and A. Hamosh and M. Egan and Rosenstein, {B. J.}",

year = "1997",

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AU - Warren, W. S.

AU - Hamosh, A.

AU - Egan, M.

AU - Rosenstein, B. J.

PY - 1997

Y1 - 1997

N2 - We describe a patient in whom newborn immunoreactive trypsin screening and mutation analysis suggested a diagnosis of cystic fibrosis; however, the clinical course and sweat test results were not consistent with the diagnosis. Direct sequencing of the patient's genomic DNA showed compound heterozygosity for ΔF508 and F508C, a polymorphism not associated with clinical disease.

AB - We describe a patient in whom newborn immunoreactive trypsin screening and mutation analysis suggested a diagnosis of cystic fibrosis; however, the clinical course and sweat test results were not consistent with the diagnosis. Direct sequencing of the patient's genomic DNA showed compound heterozygosity for ΔF508 and F508C, a polymorphism not associated with clinical disease.

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M3 - Article

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AN - SCOPUS:0030731736

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False-positive results of genetic testing in cystic fibrosis

Abstract

ASJC Scopus subject areas

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