*If prior authorization is not submitted, test may be delayed.
Test Overview
Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA) to determine methylation status at H19 (IC1) and KCNQ10T1 (IC2) at 11p15, and to detect copy number changes within 11p15 region.
This test is used to determine the methylation status and to detect copy number changes within IC1 and IC2 on chromosome 11p15 in patients with a phenotype consistent with Beckwith-Wiedemann syndrome (BWS, OMIM:130650). Alteration in DNA methylation status within 11p15 IC1 and IC2 are associated with Beckwith-Wiedemann syndrome (BWS). Approximately 50% of patients with BWS have a loss of methylation on the maternal chromosome (hypomethylation) at IC2 and ~5% have a gain of methylation on the maternal chromosome (hypermethylation) at IC1.
Interpretive report provided
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This MS-MLPA assay will ONLY determine methylation status and copy number changes within IC1 and IC2 on chromosome 11p15. This test is not able to identify BWS cases secondary to pathogenic variants within the CDKN1C gene nor is it able to detect pathogenic variant in other regions of the genome that phenocopy BWS.
Test Details
28 days
- BWS Syndrome Analysis
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.
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.