SETBP1 Mut Det Shadow
SETBP1 Mutation Detection
Set Binding Protein 1
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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.
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….