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Test Includes
This test includes the following gene: PMP22.
Special Instructions
This assay currently is not available in New York state.
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This assay |
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This assay currently is not available in New York state. |
Expected Turnaround Time
14 - 28 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Genes Assessed
Specimen Requirements
Specimen
Whole blood; oral swab or extracted DNA (from blood or oral swab only)
Volume
Whole blood: 4 mL, oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Minimum Volume
Whole blood: 2 mL; oral swab: 1 swab; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Container
Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Collection
Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Stability Requirements
- Room temperature: whole blood: 14 days; swab: 60 days
- Refrigerated: whole blood: 30 days; swab: 60 days
- Frozen: do not freeze
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Test Details
Use
Diagnostic testing
Limitations
This assay does not detect inversions, translocations or point mutations. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, pseudogenes, the presence of a sequence variant at a probe ligation site, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
Multiplex Ligation-Dependent Probe Amplification (MLPA) to identify copy number variants (CNVs)
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CPT Statement/Profile Statement
The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf