Test Overview
Test Methodology

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 these 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.

Test Usage

This test is used to determine methylation status and copy number changes at imprinted loci associated with human imprinting disorders, including these 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).

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

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
Days Set Up
Various days Monday – Friday
Analytic Time

28 days

Soft Order Code
UPD
MiChart Code
Uniparental disomy for chr 6, 7 or 14
Synonyms
    Laboratory
    MMGL
    Section
    MMGL Molecular Genetics
    Specimen Requirements
    Collection Instructions

    Collect blood specimen in a EDTA lavender top tube. Send it within 24 hours if stored at room temperature or within 5 days if stored refrigerated.

    Fill out a MLabs Molecular test requisition (or place an e-order if applicable):
    https://mlabs.umich.edu/media/166
    Fill out a Clinical History Form for Insurance Prior Authorization (include all required documentation indicated at the bottom of this form):
    https://mlabs.umich.edu/sites/default/files/2020-08/file/mlab11618clini…
    Fill out a UMHS Request and Consent for Genetic Testing form:
    https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…
    Michigan State law requires the ordering provider to obtaining informed consent from the patient prior to prognostic or predictive genetic testing. Contact a MLabs Client Services Center at 800-862-7284 to request paper copies or to setup a client account.

    Alternate Specimen
    Cheek swab kit (Oragene OCD-100), follow collection instructions.
    Saliva kit (Oragene OGD-510), follow collection instructions.
    Normal Volume
    5 mL whole blood
    Minimum Volume
    1 mL whole blood (0.5 mL infants)
    Storage Temperature
    Room temperature up to 24 hours or 2-8°C up to 5 days for blood
    2-36°C for saliva
    Rejection Criteria
    Hemolyzed blood sample. Fresh tissue (POC) or paraffin embedded specimens are not acceptable.
    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.

    Billing
    CPT Code
    81402
    Fee Code
    DA138
    Pro Fee CPT
    G0452-26
    NY State Approved
    No