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GTR Home > Tests > Chromosome FISH, Metaphase

Overview

Test order codeHelp: 2002299

Test name

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Chromosome FISH, Metaphase

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Genetic counseling and informed consent are recommended for genetic testing. Consent forms for genetic testing may be found on the ARUP website at: http://www.aruplab.com/genetics/resources/consent.

Specimen source

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

Methodology

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Cytogenetics
MFISH-metaphase
FISH-metaphase

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

Practice guidelines

  • ACMG, 2016
    Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
  • Fung et. al., 2015
    Practical guidelines for managing adults with 22q11.2 deletion syndrome.
  • Int'l 22q11.2 Del Syndrome Consortium, 2011
    Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome (See 2015 Update)
  • EuroGenetest, 2010
    Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)

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.