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GTR Home > Tests > Coffin-Siris syndrome Panel

Overview

Test name

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Coffin-Siris syndrome Panel

Purpose of the test

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

Buccal swab
Saliva
Cord blood
Fibroblasts
Peripheral (whole) blood
Cell culture
Fetal 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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Clinical utility

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Establish or confirm diagnosis

Citations

Clinical validity

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Tsurusaki et al, 2012 identified de novo mutations in SMARCB1 in 2/5 individuals with CSS. SMARCB1 encodes a subunit of the SWItch/Sucrose Non-Fermenting (SWI/SNF) complex, and screening of additional genes encoding subunits of this complex revealed mutations in SMARCA2, SMARCA4, SMARCE1, ARID1A and ARID1B. Overall, Tsurusaki et al, 2012 identified mutation in 20/23 (87%) patients with CSS. Mutations in SMARCA2 have since been identified in patients with Nicolaides-Baraitser syndrome.

Citations

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.