Immunogenetics - Disease and pharmacogenetics HLA association testing

TIS provides testing for patients to determine if they have HLA alleles defining genetic susceptibility with diseases or hypersensitivities to certain drugs. The presence or absence of the HLA allele can affect the clinical management of the patient. Confirmatory HLA typing is recommended for pharmacogenetic HLA associations due to the risk to the patient.

Well-documented HLA allele associations with these diseases and pharmacogenetic hypersensitivities can be invoiced through the Medicare schedule in some states (VIC, NSW). Testing for disease associations or drug hypersensitivities that are not eligible for Medicare invoicing is subject to written informed financial consent from the patient.

For patients that are part of a clinical trial, refer to the TIS External Clinical Trials and Research page for further information.

Refer to the tables below for well-documented HLA allele associations with diseases and drug sensitivities. For testing outside the below list, please contact the relevant laboratory.

HLA allele associations with diseases and drug sensitivities

Pharmacogenetics	HLA allele association	Medicare rebate (Y/N)
Abacavir hypersensitivity (includes Abacavir-based drugs if trial participant is not indicated)	B*57:01 (also see Flucloxacillin)	Y
Allopurinol hypersensitivity	B*58:01	Y
Augmentin hypersensitivity (Amoxicillin-Clavulanatic acid)	DRB1*15:01 and DQB1*06:02	Y
Carbamazepine (Tegretol), oxcarbazepine, Lamotrigine, Phenytoin hypersensitivity or Steven-Johnson syndrome	B*15:02, 15:08, 15:11, 15:21 or A*31:01 or A *24:02	Y
Dapsone hypersensitivity	B*13:01	Y
Flucloxacillin drug-induced liver injury (DILI)	B*57:01	Y
Tebentefusp for Melanoma (Uveal/ocular)	A*02:01	Y
Vancomycin hypersensitivity	A*32:01	Y
Actinic prurigo	DRB1*04:07	Y
Ankylosing spondylitis	B*27	Y
Anti-IgLON5 Disease	DRB1*10:01, DQB1*05:01	Y
Arthritis	B*27	Y
Auto-immune hepatitis	DRB1*03, DRB1*04 or DRB1*07	Y
Behçet’s disease	B*51 (B5)	Y
Birdshot retinopathy/choroidopathy/posterior uveitis	A*29	Y
Coeliac disease	DQB1*02 and/or DQA1*05, DQB1*03:02 (DQ2/DQ8)	Y
Dermatitis herpetiformis	DQB1*02 and/or DQA1*05, DQB1*03:02 (DQ2/DQ8)	Y
Goodpasture’s syndrome	DRB1*15	Y
Juvenile idiopathic arthritis	B*27	Y
Narcolepsy (with cataplexy)	DQB1*06:02	Y
Psoriasis vulgaris	C*06	Y
Psoriatic arthritis	B*27	Y
Polyarthritis	B*27	Y
Reiter’s disease or Reactive arthritis, Juvenile chronic arthritis	B*27	Y
Rheumatoid arthritis	B*27, DRB1*04	Y
Spondyloarthropathy	B*27	Y
Uveitis, acute anterior uveitis or iritis	B*51 (B5), B*27	Y
Vogt-Koyanagi-Harada Disease (VKH)	DRB1*04	Y
Addison’s Disease	DRB1*03:01 and DQB1*02; or DRB1*04:04 and DQB1*03	N
Alopecia areata	DRB1*04 and DQB1*03; or DRB1*11 and DQB1*03	N
Graves’ disease	B*08, DRB1*03:01	N
Hashimoto’s thyroiditis	DRB1*03	N
Myasthenia gravis	DRB1*03:01, 07	N
Recurrent Miscarriage	N/A	N
Sjogren’s or Sicca Syndrome	DRB1*03:01, DRB1*15	N
Strontium ranelate	HLA-A*33:03 or B*58:01	N
Systemic lupus erythematosus (SLE)	DRB1*03	N

Testing

Tests performed including turnaround time	NSW & VIC - HLA typing - low resolution (LabType) SA -  HLA Class I + II (A,B,C,DR,DQ, DP) Typing - high resolution
Request form	NSW - FRM-01679 - Immunogenetics Service VIC - FRM-01335 - VTIS request form SA -  FRM-01336 - SATIS Laboratory
Sample and labelling requirements	FRM-02565 - Sample and volume requirements
Storage and transport	Storage and transport at room temperature.  Samples should be received by the laboratory within 24 hours of collection. Ensure samples are packed in a secure container and the outside of the transport container is clearly labelled with the delivery address.
Invoicing	Contact relevant laboratory
Special instructions	The following information is required for Medicare eligible tests: Patient Medicare number and post code, requesting doctors name and provider number and the clinical reason for testing.