Test Overview
Multi-locus Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA) is used to determine the methylation status and the copy number at imprinted loci associated with human imprinting disorders, including those in 6q24.2 (PLAGL1), 7p12.1 (GRB10), 7q32.2 (MEST), 11p15.5 (IC1/H19 and IC2/KCNQ1OT1), 14q32.2 (MEG3), 15q11.2 (SNRPN), 16p13.3 (ZNF597), 19q13.43 (PEG3), and 20q13.32 (NESP55 and GNAS). Uniparental disomy (UPD) of chromosomes containing these imprinted loci is often associated with imprinting disorders: paternal UPD(6) with transient neonatal diabetes; maternal UPD(7) with Russell-Silver syndrome; paternal mosaic segmental UPD(11p) with Beckwith-Wiedemann syndrome; maternal UPD(14) with Temple syndrome, while paternal UPD(14) with Kagami-Ogata syndrome; maternal UPD(15) with Prader-Willi syndrome, while paternal UPD(15) with Angelman syndrome; maternal UPD(20) with Mulchandani-Bhoj-Conlin syndrome, while paternal UPD(20) with pseudohypoparathyroidism type 1b. And primary epimutations at multiple imprinted loci cause multi-locus imprinting disturbances (MLID) in a subset of patients with imprinting disorders
This test is used to determine methylation status and copy number changes at imprinted loci associated with human imprinting disorders, including those in 6q24.2 (PLAGL1), 7p12.1 (GRB10), 7q32.2 (MEST), 11p15.5 (IC1/H19 and IC2/KCNQ1OT1), 14q32.2 (MEG3), 15q11.2 (SNRPN), 16p13.3 (ZNF597), 19q13.43 (PEG3), and 20q13.32 (NESP55 and GNAS).
Interpretive report provided.
*Reference ranges may change over time. Please refer to the original patient report when evaluating results.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
MS-MLPA is not able to identify uniparental disomy (upd) in other regions of the genome not targeted by this assay (www.ncbi.nlm.nih.gov/books/NBK535150).
Test Details
Specimen Requirements
Cheek swab kit (Oracollect OCD-100), follow collection instructions.
Saliva kit (Oragene OGD-510), follow collection instructions.
This test is not currently orderable for MLABS clients.
2 Cheek Swabs
1 Saliva Kit
2 Cheek Swabs
1 Saliva Kit
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.