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GTR Home > Tests > qPCR

Overview

Test order codeHelp: 512025

Test name

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qPCR (qPCR)

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Health care providers should submit an order (electronically or hard copy requisition) under LabCorp account number. This is not a published test code.

Specimen source

Buccal swab
Isolated DNA
Peripheral (whole) blood
Skin

Methodology

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Molecular Genetics
TTargeted variant analysis
Quantitative PCR (qPCR)
  • QuantStudio(TM) 7 Flex Real-Time PCR system
  • Life Technologies

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Predictive risk information for patient and/or family members

Citations
  • Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. - PubMed ID: 26777411

Clinical validity

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Not provided

Testing strategy

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Previous SNP microarray must've been run on the proband previously, and there must be usable DNA remaining from proband testing to order qPCR on the relative. 000 Health care providers should submit an order (electronically or hard copy requisition) under LabCorp account number. This is not a published test code.

Test services

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  • Custom Deletion/Duplication Testing, Order code: 510770
  • Maternal cell contamination study (MCC), Order code: 511402, comments
  • qPCR, Order code: 512025, comments
  • Result interpretation, Order code: 510002
  • Uniparental Disomy (UPD) Testing, Order code: 470074, comments

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.