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
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.
- BWS Syndrome Analysis
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….
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.