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GTR Home > Tests > Rapid microarray (CGH and SNP)

Overview

Test order codeHelp: 100

Test name

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Rapid microarray (CGH and SNP)

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 handling instructions please visit: https://www.allelediagnostics.com/ordering/sample-requirements/. Allele Diagnostics accepts samples Monday-Saturday excluding some holidays. Contact Allele Diagnostics regarding holiday schedules. Please include a complete copy of the appropriate Allele Diagnostics Requisition form: https://www.allelediagnostics.com/ordering/requisition/. Our secure on-line 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

Buccal swab
Cell culture
Cord blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Skin

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray
HDetection of homozygosity
SNP Detection

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 utility of chromosomal microarray analysis. - PubMed ID: 23071206

Guidance for management

Citations
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. - PubMed ID: 20962661
  • Clinical utility of chromosomal microarray analysis. - PubMed ID: 23071206

Clinical validity

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Not provided

Testing strategy

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After identification of a copy number gain or loss, FISH confirmation/visualization is attempted for majority of findings if specimen is adequate. 000 For specimen requirements and handling instructions please visit: https://www.allelediagnostics.com/ordering/sample-requirements/. Allele Diagnostics accepts samples Monday-Saturday excluding some holidays. Contact Allele Diagnostics regarding holiday schedules. Please include a complete copy of the appropriate Allele Diagnostics Requisition form: https://www.allelediagnostics.com/ordering/requisition/. Our secure on-line portal allows providers the option of both placing test orders and receiving reports securely on-line.

Test services

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  • Custom Deletion/Duplication Testing

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.