Test Overview
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 variants outside the region sequenced in the SETBP1 gene. This assay is designed specifically to detect variants present in an 11 bp fragment of exon 4 of SETBP1, other variants in this gene may not be detected. Variants in other genes associated with the aforementioned syndrome will not be detected. Variant classification reflects the current state of scientific understanding at the time of test completion. As new scientific data becomes available, the interpretation and classification of variants identified in this assay may change. Test interpretation may be impacted by the presence of a hematologic malignancy or an allogenic bone marrow transplant.
Test Details
28 days
- SETMS
- SETBP1 Mut Det Shadow
- SETM
- SETBP1 Mutation Detection
- SETBP-1
- Set Binding Protein 1
- SEB
- Schinzel-Giedion Syndrome
Specimen Requirements
Collect blood specimen in a EDTA lavender top tube. Send it within 24 hours if stored at room temperature or within 5 days if stored refrigerated.
Fill out a MLabs Molecular test requisition (or place an e-order if applicable):
https://mlabs.umich.edu/media/166
Fill out a Clinical History Form for Insurance Prior Authorization (include all required documentation indicated at the bottom of this form):
https://mlabs.umich.edu/sites/default/files/2020-08/file/mlab11618clini…
Fill out a UMHS Request and Consent for Genetic Testing form:
https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…
Michigan State law requires the ordering provider to obtaining informed consent from the patient prior to prognostic or predictive genetic testing. Contact a MLabs Client Services Center at 800-862-7284 to request paper copies or to setup a client account.
Saliva kit (Oragene OGD-510), follow collection instructions.
Room temperature up to 24 hours or 2-8°C up to 5 days for blood
2-36°C for saliva
Additional Information
Most insurance carriers require prior authorization for genetic testing. Testing will not begin until insurance prior authorization is received by the laboratory or it is confirmed that prior authorization is not required. The ordering health care provider can obtain the prior authorization or request the laboratory to submit it. To obtain BCN prior authorization call Joint Venture Hospital Laboratories (JVHL) at 800-445-4979; for all other insurances, contact the plan directly. By ordering this test the clinician acknowledges that informed consent, https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…, 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.