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

Manning M1, Hudgins L; Professional Practice and Guidelines Committee.

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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

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.