Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

DMPK DNA TEST (DM1)

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB2737         Geisinger Epic ID: 35487

SPECIMEN COLLECTION
Specimen type:
Whole blood
Preferred collection container:
Specimen required:
8 mL whole blood; minimum 6 mL. Caution: Minimum is 6 mL but, depending on the DNA extraction process, 6 mL may not be enough. Pediatric volume: 2 mL, (minimum 1 mL). **Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Special notes:
Collect specimen Monday through Thursday only. Must arrive at Quest Monday through Friday.

SPECIMEN PROCESSING
Transport temperature:
Room temperature. Avoid freezing. Ship same day. Must arrive at Quest Monday through Friday only.
Specimen stability:
Room temperature: 10 days. Refrigerated: 10 days. Frozen: Unacceptable
Rejection criteria:
Specimens received frozen.

TEST DETAILS
Additional information:
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Complete Myotonic Dystrophy Evaluation. Prenatal testing is available. Turnaround time 14-21days.
CPT code(s):
81234
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.  The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
Methodology:
Repeat Expansion Detection by PCR
Southern Blot
Synonyms:
Myotonic Dystrophy, type 1
Complete Myotonia Evaluation, Complete Myotonic Dystrophy Evaluation
DM1 DNA Test
DM1DNA, Quest test code 36164
Clinical significance:
Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene.

Performing Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Setup: Varies. Report available: 14-28 days.    
Performed stat? No
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