Focused Pharmacogenomics Panel [A Test in Focus]
- Preemptive or reactive genotyping of patients for pharmacogenomic purposes
- Providing an assessment for genes with strong drug-gene associations
This panel provides a comprehensive analysis for multiple genes with strong drug phenotype associations. Each sample is tested for specific variations with known functional impact. Pharmacogenomic data for the following specific variants are reviewed and reported (if present):
CYP1A2 *1F, *1K, *6, and *7
CYP2C9 *2, *3, *4, *5, *6, *8, *9, *11, *12, *13, *14, *15, *16, *17, *18, *25, *26, *28, *30, *33, and *35
CYP2C19 *2, *3, *4, *5, *6, *7, *8, *9, *10, *17, and *35
CYP2D6 *2, *2A, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14A, *14B,*15, *17, *29, *35, *36, *41, *68, and CYP2D6gene duplication Additional CYP2D6 variants may be detected through the reflex testing process.
CYP3A4 *8, *11, *12, *13, *16, *17, *18, *22, and *26
CYP3A5 *3, *5, *6, *7, *8, and *9
SLCO1B1 rs4149056 variant found in the *5, *15 and *17 alleles, and rs4149015 found in the *17 and *21 alleles
VKORC1 c. -1639G>A, c.85G>T, c.106G>T, c.121G>T, c.134T>C, c.172A>G, c.196G>A, c.358C>T, and c.383T>G
Based on the results of each assay, a genotype is assigned and a phenotype is predicted for each gene. Assessment of multiple genes may assist the ordering clinician with personalized drug recommendations, avoidance of adverse drug reactions, and optimization of drug treatment.
Specimen Required (submit only 1 of the following specimens)
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink smoke, or chew gum 30 minutes prior to collection.
Supplies: DNA Saliva Collection Kit (T786)
Container/Tube: Saliva Swab Collection Kit (T786: fees apply)
Specimen Volume: One swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient
Additional Information: Due to lower concentration of DNA yielded from saliva, testing cannot proceed to reflex testing for 2D6 sequencing and will stop after initial testing is complete.
Specimen Type: DNA
Container/Tube: 2 mL screw top tube
Specimen Volume: 100 mcL (microliters)
1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated
Day(s) and Time(s) Test Performed
- Monday through Friday; 8 a.m.
- 3 days (not reported Saturday or Sunday)