U.S. flag

An official website of the United States government

GTR Home > Tests > Chromosome analysis

Overview

Test order codeHelp: 2002289, 2002286, 2002293, 2002291, 2002288, 2002287, 0092329

Test name

Help

Chromosome analysis

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Risk Assessment

Condition

Help

Click Indication tab for more information.

How to order

Help

Order URL Help: http://www.aruplab.com/genetics/tests/cytogenetics

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Fibroblasts
Fresh tissue
Peripheral (whole) blood
Product of conception (POC)
Skin

Methodology

Help
Cytogenetics
KKaryotyping
G-banding

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

Not provided

Testing strategy

Help

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 0092329 - Cytogenetics Process and Hold for Peripheral Blood 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 0092329 - Cytogenetics Process and Hold for Peripheral Blood

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

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.