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GTR Home > Tests > UBE3A Gene Sequencing

Overview

Test order codeHelp: UBE3A

Test name

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UBE3A Gene Sequencing (UBE3A)

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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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/903

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

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Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Testing strategy

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https://www.pathology.med.umich.edu/handbook/#/details/903 000 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: UBE3A
  • Confirmation of research findings, Order code: CLIFS
  • Custom Sequence Analysis, Order code: CLVRS

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.