Schinzel-giedion syndrome testing (SETBP1)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000329379.3
- Last updated: 2022-10-25
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Schinzel-Giedion syndrome
Offered by Genetic Services Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Schinzel-giedion syndrome testing (SETBP1)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening
Click Indication tab for more information.
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 HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://dnatesting.uchicago.edu/submitting-sample
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- 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)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Mutations of the SETBP1 [OMIM #611060] gene were identified in four patients with SGS by whole exome sequencing. Additional sequencing of the SETBP1 gene in individuals with SGS identified mutations in 8/9. All 13 patients in this study met Lehman’s above diagnostic criteria. SETBP1 has 6 coding exons and all mutations reported to date have been de novo missense mutations within a stretch of 11 base pairs in exon 4.
- 1. Lehman, AM, et al. “Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.” (2008) Am. J. Med. Genet. 146A: 1299-1306. 2. Hoischen A, et al. “De novo mutations of SETBP cause Schinzel-Giedion syndrome.” (2010) Nature Genet. 42: 483-485, 2010. 3. Suphapeetiporn K, Srichomthong C, Shotelersuk V. “SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.” (2011) Clin. Genet. 79: 391-393, 2011.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Confirmation of research findings
- Custom Sequence Analysis
- Custom Prenatal Testing
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