Test Overview
Test Methodology

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.

Test Usage

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.

Reference Range *

Interpretive report provided

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

Test Limitations

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
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
BWSM
MiChart Code
Beckwith-Wiedemann Syndrome Analysis
Synonyms
  • BWS Syndrome Analysis
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 mL EDTA whole blood
Minimum Volume
1 mL EDTA whole blood
Storage Temperature
5 days refrigerated or 24 hours at room temperature
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. 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
81401
Fee Code
DA136
Pro Fee CPT
G0452-26
Prior Authorization
The Prior Authorization form is required for this test. Click here to download the PDF.
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