A short description of the method used to perform the test
Repeat Expansion Detection by PCR, Southern Blot
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Lists a shorter or abbreviated version of the Published Name for a test
CNBP DNA (DM2)
Lists additional common names for a test, as an aid in searching
CNBP DNA (DM2)
Myotonic Dystrophy, Type 2
Describes the specimen type validated for testing
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Specimen Type: Whole Blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 8 mL
Collection Instructions: Send 8 mL whole blood (lavender-top) EDTA tubes
Note: Collection date is required.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis || NA |
| Lipemia || NA |
| Icterus || NA |
| Other || NA |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) gene.
Typical Presentation: Individuals with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia.
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
A final report will be attached in MayoAccess.
Test Setup Resources
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Excel | Pdf
SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.
SI Normal Reports |
SI Abnormal Reports