Test Code CARBR Carbamazepine Hypersensitivity Pharmacogenomics, Varies
Reporting Name
Carbamazepine PGx Panel, VPerforming Laboratory
Mayo Clinic Laboratories in RochesterUseful For
Identifying individuals with increased risk of risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions
Method Name
Qualitative Allele-Specific Real-Time Polymerase Chain Reaction (PCR)
Specimen Required
Multiple genotype tests can be performed on a single specimen after a single extraction. See Multiple Genotype Test List for a list of tests that can be ordered together.
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
Supplies: Saliva Swab Collection Kit (T786)
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
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
Specimen Type
VariesSpecimen Minimum Volume
Blood: 0.35 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.
Interpretation
The presence of the HLA-B*15:02 and/or HLA-A*31:01 allele confers increased risk for hypersensitivity to carbamazepine. The presence of the HLA-B*15:02 allele also confers increased risk for hypersensitivity to oxcarbazepine and phenytoin.
For additional information regarding pharmacogenomic genes and their associated drugs, see the Pharmacogenomic Associations Tables. This resource also includes information regarding enzyme inhibitors and inducers, as well as potential alternate drug choices.
Day(s) Performed
Monday, Wednesday through Friday
Report Available
1 to 5 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81381 x 2
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
CARBR | Carbamazepine PGx Panel, V | 94855-4 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
610657 | HLA-A*31:01 Genotype | 79712-6 |
610658 | HLA-B*15:02 Genotype | 57979-7 |
610659 | Carbamazepine PGx Panel Phenotype | 93308-5 |
610660 | Interpretation | 69047-9 |
610661 | Additional Information | 48767-8 |
610662 | Method | 85069-3 |
610663 | Disclaimer | 62364-5 |
610664 | Reviewed by | 18771-6 |
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:
-Therapeutics Test Request (T831)