Test Catalog

Test Id : FDM1

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DMPK DNA Test (DM1)

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Overview

Test Catalog

Method Name
A short description of the method used to perform the test

Repeat Expansion Detection by PCR, Long Read Sequencing

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

DMPK DNA (DM1)

Aliases
Lists additional common names for a test, as an aid in searching

DM1 DNA

DM1 DNA Test

Myotonic Dystrophy

Specimen Type
Describes the specimen type validated for testing

Whole Blood EDTA

Specimen Required
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:

1. Draw blood in a lavender-top (EDTA) tube.

2. Invert several times to mix.

3. Send ambient

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. The minimum volume is sufficient for one attempt at testing.

6 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Hemolysis OK
Lipemia OK
Icterus OK

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Whole Blood EDTA Ambient (preferred) 10 days
Refrigerated 10 days

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene.

 

Typical presentation: Adults may present with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia, infants may present with severe hypotonia, skeletal deformities, developmental delay and mental retardation.

Reference Values
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.

 

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

Referral

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday, Thursday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

14 to 32 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Athena Diagnostics

Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81234

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
FDM1 DMPK DNA (DM1) Not Provided
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
Z0101 DMPK DNA (DM1) Not Provided

Test Setup Resources

Setup Files
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

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

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

Test Update Resources

Change Type Effective Date
Test Changes - Method 2025-04-17