GTR Home > Tests > GATA6 deletion/duplication analysis

Overview

Test name

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GATA6 deletion/duplication analysis

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Mutations in the GATA6 [OMIM#601656] gene have been reported in patients with PACHD. Lango Allen et al, 2011 identified mutations in GATA6 in 56% of subjects with pancreatic agenesis. GATA6 is a member of a GATA family of zinc-finger transcriptional regulators, which bind to the common WGATAR motif in the regulatory regions of many genes.

Citations

Clinical utility

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Establish or confirm diagnosis

Citations
  • GATA6 haploinsufficiency causes pancreatic agenesis in humans. - PubMed ID: 22158542
  • Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation. - PubMed ID: 22962692

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

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.

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