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Test Code CARBR Carbamazepine Hypersensitivity Pharmacogenomics, Varies


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


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)

-Neurology Specialty Testing Client Test Request (T732)

Useful 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)

Reporting Name

Carbamazepine PGx Panel, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 0.35 mL
Saliva, extracted DNA: see Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

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.

Clinical Reference

1. Phillips EJ, Sukasem C, Whirl-Carrillo M, et al: Clinical Pharmacogenetics Implementation Consortium guideline for HLA genotype and use of carbamazepine and oxcarbazepine: 2017 Update. Clin Pharmacol Ther. 2018;103(4):574-581

2. Caudle KE, Rettie AE, Whirl-Carrillo M, et al: Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing. Clin Pharacol Ther. 2014;96(5):542-548

3. McCormack M, Alfirevic A, Bourgeois S, et al: HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med. 2011;364:1134-1143

4. Amstutz U, Shear NH, Rieder MJ, et al: Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia. 2014;55:496-506

5. Caudle KE, Rettie AE, Whirl-Carrillo M, et al: Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing. Clin Pharmacol Ther. 2014;96(5):542-548

Day(s) Performed

Monday, Wednesday through Friday

Report Available

1 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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