CYP2D6 Gene Analysis Common Variants
Label Mnemonic: CYP2D6
Epic Lab Code: LAB8356
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
All samples must be labeled with the patient's name, date of birth, and date of collection. Samples must be received within 72 hours of sample collection.
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Minimum:
6 mL whole blood in pink top tube (completely fill tube)
Pediatric Minimum: 3 mL whole blood
Turn Around Time:
Approximately 6 weeks after receipt at reference laboratory.
Interpretive Data:
The reference laboratory team reviews the results. The team includes physicians, scientists, bioinformaticians, pharmacists, and genetic counselors.

Variants are classified and clinical recommendations are made in accordance to the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Note: At this time, the reference laboratory provides results for CYP2D6 variants affecting response to opioids including codeine and tramadol and CYP2C19 variants affecting clopidogrel response. Variants in these two genes also affect the metabolism of other drugs.
Comments:
Please print, complete and submit the Drug Metabolism Test Requisition Form to the lab, with the specimen and the A-1a Miscellaneous Request or Epic Req.
Test Limitations:
Data sensitivity and specificity for testing is >99.9%. Pharmacogenomic DNA variants are covered at our depth-of-coverage minimum threshold (30 reads). In general, >99% of single nucleotide variant calls and small insertion/deletion variant calls are confirmed when compared to an orthogonal technology.

Reported single nucleotide variants and the copy number variant CYP2D6 *5 are confirmed by an orthogonal technology (such as Sanger Sequencing or TaqMan Assay).
Methodology:
Targeted sequence capture followed by massively parallel sequencing using the IIHG PGx xGen® Lockdown® Probes and the Illumina MiSeq sequencer to detect DNA variations in CYP2C19 and CYP2D6.
CPT Code:
81226