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GTR Home > Tests > Standard karyotype (pediatric)

Overview

Test order codeHelp: 200

Test name

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Standard karyotype (pediatric)

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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For specimen requirements and information on specimen handling and shipping, please visit our website at https://www.allelediagnostics.com/ordering/sample-requirements/. Test requisitions may be printed from our website (https://www.allelediagnostics.com/ordering/requisition/) and are required to be sent with the sample. Our secure online portal allows providers the option of both placing test orders and receiving reports securely on-line.
Order URL Help: https://www.allelediagnostics.com/ordering/order-test/

Specimen source

Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Peripheral (whole) blood
Product of conception (POC)
Skin

Methodology

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Cytogenetics
KKaryotyping
G-banding

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Reproductive decision-making

Citations
  • Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. - PubMed ID: 15959648

Establish or confirm diagnosis

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

Guidance for management

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

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.