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GTR Home > Tests > Rubinstein-Taybi Syndrome Panel

Overview

Test order codeHelp: 1320

Test name

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Rubinstein-Taybi Syndrome Panel

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Saliva
Isolated DNA
Buccal swab
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Confirmation of research findings
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.