A fragment of Exon 4 of the SETBP1 gene is amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of mutations in the SETBP1 gene in an 11 bp fragment of exon 4, chromosome position Chr18:40,789,905-40,789,915 (hg18) at nucleotides 2,602-2,612; and in patients with clinical features consistent with Schinzel-Giedion Syndrome.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This assay will not detect large deletions in the SETBP1 gene or intronic mutations outside the region sequenced in the SETBP1 gene. This assay is designed specifically to detect mutations present in an 11 bp fragment of exon 4 of SETBP1, other mutations in this gene may not be detected. Mutations in other genes associated with the aforementioned syndrome will not be detected.
- SETBP1 Mut Det Shadow
- SETBP1 Mutation Detection
- Set Binding Protein 1
- Schinzel-Giedion Syndrome
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.