Carbamazepine Hypersensitivity Pharmacogenomics, Varies
Use
Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions. Clinical studies have demonstrated associations between specific HLA genotypes, such as HLA-B*15:02 and HLA-A*31:01, and drug-associated cutaneous adverse reactions. This test is essential for screening genetically at-risk populations to prevent severe reactions such as Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
Special Instructions
Informed consent is required for New York clients. Document on the request form or electronic order that a copy is on file. If not ordering electronically, complete and send the appropriate forms with the specimen. Specimens should ideally be received within 4 days of collection. Extraction and testing are attempted even if received later, though conditions apply.
Limitations
Rare HLA-A and HLA-B alleles may interfere with the assay, leading to false-positive or negative results. Donor DNA presence due to transfusions or stem cell transplants may affect genotype accuracy. Specific gene regions might not be interrogated properly from saliva samples due to DNA yield issues, impacting test performance. In such cases, additional specimen collection may be requested.
New York Approved
Methodology
PCR-based (Real-Time PCR)
Biomarkers
LOINC Codes
- 94855-4
- 79712-6
- 57979-7
- 93308-5
- 69047-9
- 48767-8
- 85069-3
- 62364-5
- 18771-6
Result Turnaround Time
1-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |