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GTR Home > Tests > CHD7 Gene Sequencing

Overview

Test order codeHelp: CHD7S

Test name

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CHD7 Gene Sequencing (CHD7)

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Provide appropriate sample, relevant clinical information and a completed requisition form.
Order URL Help: https://www.pathology.med.umich.edu/handbook/#/details/4973

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq 550

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Testing strategy

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http://www.pathology.med.umich.edu/handbook/ 000 Provide appropriate sample, relevant clinical information and a completed requisition form.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: CHD7S
  • Confirmation of research findings, Order code: CLIFS
  • Custom Sequence Analysis, Order code: CLIFS

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • EuroGentest, 2011
    Clinical utility gene card for: CHARGE syndrome.

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.