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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
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL pediatric
Instructions
*Consent Required
This test requires physician attestation that patient consent has been received.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Stability Restrictions: Specimens (and signed informed consent form) must arrive at Chantilly Monday through Thursday within 24 hours of collection. Do not freeze whole blood specimens. Transport by overnight express at room temperature.
This test requires physician attestation that patient consent has been received.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Stability Restrictions: Specimens (and signed informed consent form) must arrive at Chantilly Monday through Thursday within 24 hours of collection. Do not freeze whole blood specimens. Transport by overnight express at room temperature.
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
Set up: Bi-Weekly; Report available: 14-28 days
Report Available
28 Days
Reference Range
See Laboratory Report
Clinical Significance
Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene.
