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DMPK DNA Test (DM1)
Test Code36164
CPT Codes
81234
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
6 mL
Instructions
Do not freeze. Overnight shipping preferred.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection by PCR, Southern Blot
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Report available: 14-28 days
Clinical Significance
Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene.
