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Geisinger Medical Laboratories Test Catalog
DMPK DNA TEST (DM1) |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2737 Geisinger Epic ID: 35487 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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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 |
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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 |
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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 |
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Synonyms: |
Myotonic Dystrophy, type 1 Complete Myotonia Evaluation, Complete Myotonic Dystrophy Evaluation DM1 DNA Test DM1DNA, Quest test code 36164
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Clinical significance: |
Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene. | |