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), 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 within 6q24.2, 7p12.1, 7q32.2, and 14q32.2. Maternal uniparental disomy 6q24.2 (UPD(6)mat) is associated with transient neonatal diabetes. Maternal uniparental disomy 7 (UPD(7)mat) is associated with pre- and postnatal growth restriction and with Russell-Silver syndrome (RSS). Maternal uniparental disomy 14q32.2 (UPD(14)mat) is associated with Temple syndrome that is characterized by growth failure, muscular hypotonia, precocious puberty, feeding difficulties, and small hands and feet, while paternal uniparental disomy 14q32.2 (UPD(14)pat) is associated with Kagami-Ogata syndrome that is characterized with facial ‘gestalt’ with full cheeks and protruding philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios.
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
28 days
Specimen Requirements
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/media/188.
See Uniparental Disomy for Imprinting Disorders (non-blood) for alternate specimen types
5 mL EDTA whole blood
1 mL EDTA whole blood
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.