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GTR Home > Tests > Cytogenomic SNP Microarray

Overview

Test order codeHelp: 2003414, 2006267, 2005633, 2010795, 2002366, 0040186

Test name

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Cytogenomic SNP Microarray

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Order URL Help: https://www.aruplab.com/genetics/ordering

Specimen source

Amniocytes
Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Cord blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
Product of conception (POC)
Skin

Methodology

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Cytogenetics
KKaryotyping
Microarray
  • Affymetrix CytoScan HD Array
Molecular Genetics
HDetection of homozygosity
Oligonucleotide hybridization-based DNA sequencing
  • Affymetrix CytoScan HD Array

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. - PubMed ID: 20962661

Clinical validity

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Not provided

Testing strategy

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2005763 - Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray 2008367 - Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray 2005762 - Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray 2011130 - Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray 2011131 - Chromosome FISH, Chorionic Villus with Reflex to Chromosome Analysis or Genomic Microarray 2009353 - Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood 0040186 - Genomic Microarray Process & Hold 2014314 - Autism and Intellectual Disability Comprehensive Panel 000 2005763 - Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray 2008367 - Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray 2005762 - Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray 2011130 - Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray 2011131 - Chromosome FISH, Chorionic Villus with Reflex to Chromosome Analysis or Genomic Microarray 2009353 - Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood 0040186 - Genomic Microarray Process & Hold 2014314 - Autism and Intellectual Disability Comprehensive Panel

Practice guidelines

  • ACMG, 2021
    Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
  • NSGC, 2021
    National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening
  • ACMG, 2016
    Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
  • ESHG/ASHG, 2015
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
  • NSGC, 2013
    Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. (Replaced by NSCG, 2021 Statement)
  • ACMG, 2013
    ACMG statement on noninvasive prenatal screening for fetal aneuploidy. (See 2016 Update)
  • ICFMM, 2013
    Position Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing.
  • NSGC, 2013
    NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

Consumer resources

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