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GTR Home > Tests > Schinzel-giedion syndrome testing (SETBP1)


Test name


Schinzel-giedion syndrome testing (SETBP1)

Purpose of the test


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



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Click Indication tab for more information.

How to order


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

Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Cord blood
Fetal blood
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)


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


Not provided

Clinical validity


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

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Custom Prenatal 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.