Molecular genetic testing in pediatric practice

A subject review

Christopher M Cunniff, J. L. Frias, C. Kaye, J. B. Moeschler, S. R. Panny, T. L. Trotter, J. W. Hanson, J. Williams, C. A. Moore, M. Lloyd-Puryear, F. De la Cruz, S. Cho, F. Desposito, H. E. Hoyme, L. Hall

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Although many types of diagnostic and carrier testing for genetic disorders have been available for decades, the use of molecular methods is a relatively recent phenomenon. Such testing has expanded the range of disorders that can be diagnosed and has enhanced the ability of clinicians to provide accurate prognostic information and institute appropriate health supervision measures. However, the proper application of these tests may be difficult because of their scientific complexity and the potential for negative, sometimes unexpected, consequences for many patients. The purposes of this subject review are to provide background information on molecular genetic tests, to describe specific testing modalities, and to discuss some of the benefits and risks specific to the pediatric population. It is likely that pediatricians will use these testing methods increasingly for their patients and will need to evaluate critically their diagnostic and prognostic implications.

Original languageEnglish (US)
Pages (from-to)1494-1497
Number of pages4
JournalPediatrics
Volume106
Issue number6
StatePublished - 2000
Externally publishedYes

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Genetic Testing
Molecular Biology
Pediatrics
Inborn Genetic Diseases
Health
Population
Pediatricians

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Cunniff, C. M., Frias, J. L., Kaye, C., Moeschler, J. B., Panny, S. R., Trotter, T. L., ... Hall, L. (2000). Molecular genetic testing in pediatric practice: A subject review. Pediatrics, 106(6), 1494-1497.

Molecular genetic testing in pediatric practice : A subject review. / Cunniff, Christopher M; Frias, J. L.; Kaye, C.; Moeschler, J. B.; Panny, S. R.; Trotter, T. L.; Hanson, J. W.; Williams, J.; Moore, C. A.; Lloyd-Puryear, M.; De la Cruz, F.; Cho, S.; Desposito, F.; Hoyme, H. E.; Hall, L.

In: Pediatrics, Vol. 106, No. 6, 2000, p. 1494-1497.

Research output: Contribution to journalArticle

Cunniff, CM, Frias, JL, Kaye, C, Moeschler, JB, Panny, SR, Trotter, TL, Hanson, JW, Williams, J, Moore, CA, Lloyd-Puryear, M, De la Cruz, F, Cho, S, Desposito, F, Hoyme, HE & Hall, L 2000, 'Molecular genetic testing in pediatric practice: A subject review', Pediatrics, vol. 106, no. 6, pp. 1494-1497.
Cunniff CM, Frias JL, Kaye C, Moeschler JB, Panny SR, Trotter TL et al. Molecular genetic testing in pediatric practice: A subject review. Pediatrics. 2000;106(6):1494-1497.
Cunniff, Christopher M ; Frias, J. L. ; Kaye, C. ; Moeschler, J. B. ; Panny, S. R. ; Trotter, T. L. ; Hanson, J. W. ; Williams, J. ; Moore, C. A. ; Lloyd-Puryear, M. ; De la Cruz, F. ; Cho, S. ; Desposito, F. ; Hoyme, H. E. ; Hall, L. / Molecular genetic testing in pediatric practice : A subject review. In: Pediatrics. 2000 ; Vol. 106, No. 6. pp. 1494-1497.
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