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HelpTest Code PGXQP Focused Pharmacogenomics Panel, Varies
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
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 Stability Information: Ambient 30 days
Specimen Type: Extracted DNA
Container/Tube: 2-mL screw top tube
Specimen Volume: 100 mcL (microliters)
Collection Instructions:
1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.
2. Provide concentration of DNA and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
-Neurology Specialty Testing Client Test Request (T732)
-Therapeutics Test Request (T831)
-Cardiovascular Test Request (T724)
-Renal Diagnostics Test Request (T830)
Useful For
Preemptive or reactive genotyping of patients for pharmacogenomic purposes
Providing an assessment for genes with strong drug-gene associations
Genetics Test Information
This test includes targeted testing to evaluate the following genes:
CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, SLCO1B1, VKORC1, CYP4F2, and rs12777823.
CYP2D6 testing is done in 2 tiers when needed. Tier 1 uses a polymerase chain reaction (PCR)-based 5'-nuclease assay to determine the variants present. All samples also have copy number determined by PCR-based 5'-nuclease assay. Testing in tier 1 allows for the detection of all common CYP2D6 variants (eg, *2, *3, *4, *5, *6, *7, *8, *9, *10, *17, *29, *35, *41, *59) and rarer alleles such as *11, *12, *14, *15, and *114. Duplications and multiplications of alleles are also identified. Unitary and tandem CYP2D7-2D6 (*13) alleles and CYP2D6-2D7 (eg, *4N, *36, and *68) alleles can also be detected. Tier 2 testing involves sequencing using fluorescent dye-terminator chemistry and is only done if an ambiguous phenotype results from tier 1 testing. Approximately 3% of samples require tier 2 testing.
Testing Algorithm
If a specimen requires follow-up for CYP2D6, then reflex testing will be performed as appropriate at an additional charge.
For more information see CYP2D6 Comprehensive Cascade Testing Algorithm.
Special Instructions
Reporting Name
Focused Pharmacogenomics Panel, VSpecimen Type
VariesSpecimen Minimum Volume
Whole Blood: 1 mL
Saliva, extracted DNA: see Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
Report Available
3 to 14 daysSpecimen Retention Time
Whole blood/Saliva: 2 weeks; Extracted DNA: 2 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
0029U
0071U (if appropriate)
0072U (if appropriate)
0073U (if appropriate)
0074U (if appropriate)
0075U (if appropriate)
0076U (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PGXQP | Focused Pharmacogenomics Panel, V | 82118-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 610185 | CYP1A2 Genotype | 72884-0 |
| 610186 | CYP1A2 Phenotype | 94254-0 |
| 610187 | CYP2C19 Genotype | 57132-3 |
| 610188 | CYP2C19 Phenotype | 79714-2 |
| 610570 | CYP2C19 Activity Score | 104667-1 |
| 610189 | CYP2C9 Genotype | 46724-1 |
| 610190 | CYP2C9 Phenotype | 79716-7 |
| 610571 | CYP2C9 Activity Score | 104668-9 |
| 610191 | CYP2D6 Genotype | 40425-1 |
| 610192 | CYP2D6 Phenotype | 79715-9 |
| 610572 | CYP2D6 Activity Score | 104669-7 |
| 610193 | CYP3A4 Genotype | 81139-8 |
| 610194 | CYP3A4 Phenotype | 81145-5 |
| 610195 | CYP3A5 Genotype | 81140-6 |
| 610196 | CYP3A5 Phenotype | 79717-5 |
| 610197 | SLCO1B1 Genotype | 93412-5 |
| 610198 | SLCO1B1 Phenotype | 79722-5 |
| 610199 | Warfarin CYP2C9 Genotype | 46724-1 |
| 610201 | Warfarin VKORC1 Resistance Genotype | 50722-8 |
| 610200 | Warfarin VKORC1 Promoter Genotype | 50722-8 |
| 614000 | Warfarin CYP2C9 and VKORC1 Promoter Phenotype | 54451-0 |
| 610202 | Warfarin CYP4F2 *3 Genotype | 93197-2 |
| 610203 | Warfarin rs12777823 Genotype | 93198-0 |
| 610204 | Interpretation | 69047-9 |
| 610205 | Additional Information | 48767-8 |
| 610206 | Method | 85069-3 |
| 610207 | Disclaimer | 62364-5 |
| 610208 | Reviewed by | 18771-6 |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| 2D61Z | CYP2D6 Full Gene Sequence | No, (Bill Only) | No |
| 2D62Z | CYP2D6 GEN CYP2D6-2D7 Hybrid | No, (Bill Only) | No |
| 2D63Z | CYP2D6 GEN CYP2D7-2D6 Hybrid | No, (Bill Only) | No |
| 2D64Z | CYP2D6 Nonduplicated Gene | No, (Bill Only) | No |
| 2D65Z | CYP2D6 5' Gene DUP/MLT | No, (Bill Only) | No |
| 2D66Z | CYP2D6 3' Gene DUP/MLT | No, (Bill Only) | No |