Days Set Up
Monday - Friday
Analytic Time

28 days

MiChart Code
Beckwith-Wiedemann Syndrome Analysis
Soft Order Code

Test Updated:


BWS Syndrome Analysis

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All specimens should be accompanied by a requisition.

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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.

Specimen Requirements

Collection Offsite

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….

Lavender Top Tube
Normal Volume
5 mL EDTA whole blood
Minimum Volume
1 mL EDTA whole blood

Billing Information

CPT Code
Pro Fee Code

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.