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GTR Home > Tests > Comparative genomic hybridization (aCGH-SNP)

Overview

Test order codeHelp: 2516

Test name

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Comparative genomic hybridization (aCGH-SNP) (aCGH-SNP)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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Click Indication tab for more information.

How to order

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Not provided

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization
  • Agilent SurePrint G3 Human CGH Microarray 4x180K
HDetection of homozygosity
Comparative Genomic Hybridization
  • Agilent SurePrint G3 Human CGH Microarray 4x180K
UUniparental disomy study (UPD)
Comparative Genomic Hybridization
  • Agilent SurePrint G3 Human CGH Microarray 4x180K

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Application of array-based comparative genomic hybridization to clinical diagnostics. - PubMed ID: 17065418

Clinical validity

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The array used allows to detect in more than 99% of cases alterations of size >200 kb and loss of heterozygosity >10 Mb.

Citations

Not provided

Practice guidelines

  • NCCN, 2014
    Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • ISCA, 2010
    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
  • ACMG, 2008
    Statement on guidance for genetic counseling in advanced paternal age
  • ACMG, 2008
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders (See 2013 Update)
  • Retired; ACMG, 2005
    Retired. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

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