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HelpTest Code FDM1 DMPK DNA Test (DM1)
Specimen Required
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.
Method Name
Repeat Expansion Detection by PCR, Southern Blot
Reporting Name
DMPK DNA (DM1)Specimen Type
Whole Blood EDTASpecimen Minimum Volume
6 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Ambient (preferred) | 10 days | |
| Refrigerated | 10 days |
Reject Due To
| Hemolysis | NA |
| Lipemia | NA |
| Icteric | NA |
| Other | NA |
Clinical Information
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
A final report will be attached in MayoAccess.
Day(s) Performed
Monday, Thursday
Report Available
14 to 32 daysPerforming Laboratory
Athena DiagnosticsCPT Code Information
81234
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| FDM1 | DMPK DNA (DM1) | Not Provided |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| Z0101 | DMPK DNA (DM1) | Not Provided |