U.S. flag

An official website of the United States government

GTR Home > Tests > SNP based chromosomal microarray

Overview

Test order codeHelp: CY001

Test name

Help

SNP based chromosomal microarray

Purpose of the test

Help

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

Condition

Help

Click Indication tab for more information.

How to order

Help

Order URL Help: http://genomics.ae/order/place-an-order

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
SNP Detection
  • Affymetrix CytoScan HD Array
HDetection of homozygosity
SNP Detection
  • Affymetrix CytoScan HD Array
UUniparental disomy study (UPD)
SNP Detection
  • Affymetrix CytoScan HD Array

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Citations
  • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. - PubMed ID: 20466091

Clinical validity

Help

The array consists of 1.95 million non-polymorphic markers and around 750,000 single-nucleotide polymorphism (SNP) markers, with an average genome-wide probe spacing of 1.1 kb, and an average intra-genic probe spacing of 880bp. The assay covers (25 markers/100Kb) 100% ISCA constitutional genes (n=3,483), 100% OMIM morbid genes (n=3,561) and 98% RefSeq genes (n=36,121).

Citations

Not provided

Clinical resources

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

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.