CYP2C19 Gene Analysis Common Variants
Label Mnemonic: CYP2IIHG
Epic Lab Code: LAB7876
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Human Oral Sample
Specimen Instructions:
All samples must be labeled with the patient's name, date of birth, and date of collection.
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Minimum:
Preferred Minimum: 6 mL whole blood
Pediatric Minimum: 3 mL whole blood
Delivery Instructions:
Deliver to laboratory immediately after collection.
Testing Schedule:
Monday-Friday
Turn Around Time:
Approximately 6 weeks upon receipt at reference laboratory
Interpretive Data:
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).
Comments:
This test is only intended to be offered to Cardiology patients on clopidogrel or Cardiology patients who are scheduled for an elective cardiac catheterization.

This test may not be covered by insurance.

Please print, complete, and submit the Drug Metabolism Requisition from the Iowa Institute of Human Genetics with the sample and the A-1a Miscellaneous Request or Epic Req.
Test Limitations:
It is not known how all medications are metabolized.

This is a targeted capture sequence test, therefore, variants in genes not included on this panel will not be found.

This assay is designed to amplify specific allelic variants of CYP2C19 and CYP2D6. Mutations in other areas of CYP2C19 and CYP2D6 are not detectable with this assay. Only variants with clinical recommendations are analyzed and reported. Based on our analysis pipeline we will not find variants that do not have clinical recommendations.

Please note, it is important to understand the absence of a reportable variant in a given gene does not mean there are not pathogenic variants in that gene.

The variant causing the patient's altered drug metabolism may not be detected because: some types of variants are very difficult to identify; and it may not be included in the sequenced/studied region. Typically, single nucleotide variations, and small insertions or deletions (indels) can be detected.

The test cannot predict drug metabolism severity.

If a variant is identified, it may not be recognized as drug metabolism altering because the understanding of the genome is not complete and it is not possible to predict with 100% accuracy the effect of all variants.

Interpretation of results is based on the current understanding of the human genome and human health and disease. The test may detect variants of uncertain clinical significance. Efforts will be made to limit these types of results.
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.

A custom in-house informatics analysis pipeline has been developed to translate DNA variants to a patient's drug metabolizer status.

Only variants with a known metabolizer status and clinical recommendations are reported. Novel variants are not analyzed or reported.
CPT Code:
81225