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Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA) to determine methylation status and copy number changes within PLAGL1 at 6q24.2 / GRB10 at 7p12.1, and MEST at 7q32.2 / MEG3 at 14q32.2.
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.
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….