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Test Code FDMZ CNBP DNA Test (DM2)

Reporting Name

CNBP DNA (DM2)

Specimen Type

Whole blood

Specimen Required


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.


Specimen Minimum Volume

6 mL

Specimen Stability Information

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

Reject Due To

Hemolysis NA
Lipemia NA
Icterus NA
Other NA

Reference Values

A final report will be attached in MayoAccess.

 

Day(s) Performed

Monday through Friday

Report Available

14 to 32 days

Performing Laboratory

Athena Diagnostics

CPT Code Information

81187

 

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FDMZ CNBP DNA (DM2) Not Provided

 

Result ID Test Result Name Result LOINC Value
FDMZ CNBP DNA (DM2) Not Provided

NY State Approved

Yes

Method Name

Repeat Expansion Detection by PCR, Southern Blot

 

Secondary ID

57859

Clinical Information

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.