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Test Code HL57R HLA-B*57:01 Genotype, 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. Include concentration 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 a Therapeutics Test Request (T831) with the specimen.

Useful For

Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele

 

Identifying individuals taking pazopanib who have an increased risk of elevated alanine aminotransferase  levels based of the presence of the human leukocyte antigen HLA-B*57:01 allele

Testing Algorithm

See Abacavir Hypersensitivity Testing and Initial Patient Management Algorithm

 

For additional information regarding pharmacogenomic genes and their associated drugs, see the Pharmacogenomic Associations Tables

Method Name

Qualitative Allele-Specific Real-Time Polymerase Chain Reaction (PCR)

Reporting Name

HLA-B 5701 Genotype, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 0.4 mL
Saliva: 1 swab

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

Negative

An interpretive report will be provided.

Interpretation

Positivity for human leukocyte antigen allele HLA-B*57:01 confers high risk for hypersensitivity to abacavir and higher risk of elevated alanine aminotransferase (ALT) levels in patient taking pazopanib.

 

For more information see Abacavir Hypersensitivity Testing and Initial Patient Management Algorithm.

 

For additional information regarding pharmacogenomic genes and their associated drugs, see the. 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

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81381

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HL57R HLA-B 5701 Genotype, V 50956-2

 

Result ID Test Result Name Result LOINC Value
610672 HLA-B *57:01 Genotype 50956-2
610673 HLA-B *57:01 Phenotype 93308-5
610674 Interpretation 69047-9
610675 Additional Information 48767-8
610676 Method 85069-3
610677 Disclaimer 62364-5
610678 Reviewed by 18771-6