Test Overview
Test Methodology

A fragment of Exon 4 of the SETBP1 gene is amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

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.

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

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.

Test Details
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
SETM
MiChart Code
SETBP1 (Shinzel-Giedion Syndrome) Mutation Detection
Synonyms
  • SETMS
  • SETBP1 Mut Det Shadow
  • SETM
  • SETBP1 Mutation Detection
  • SETBP-1
  • Set Binding Protein 1
  • SEB
  • Schinzel-Giedion Syndrome
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

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….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
Additional Information

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.

Billing
CPT Code
81403
Fee Code
DA042
Pro Fee CPT
G0452-26
NY State Approved
No
Resources