martes, 25 de febrero de 2014

Array-based technology and recommendations for uti... [Genet Med. 2010] - PubMed - NCBI

Array-based technology and recommendations for uti... [Genet Med. 2010] - PubMed - NCBI



 2010 Nov;12(11):742-5. doi: 10.1097/GIM.0b013e3181f8baad.

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.

Abstract

Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study.

PMID:
 
20962661
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC3111046
 
Free PMC Article




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National Guideline Clearinghouse | Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.



American College of Medical Genetics and Genomics

National Guideline Clearinghouse (NGC)

February 24, 2014

Guideline Title
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
Bibliographic Source(s)
Manning M, Hudgins L, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010 Nov;12(11):742-5. [38 references] PubMed External Web Site Policy
Guideline Status
This is the current release of the guideline.
This guideline updates a previous version: Manning M, Hudgins L. Use of array-based technology in the practice of medical genetics. Genet Med 2007;9:650–653.

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