Wednesday, May 8, 2024

HLA-B51/B52 (HLA-B5) genotype, whole blood

Description, Method, Result Format and Reference values and Modification

Test code: 5121
Mnemonic code: GHLB5

Effective update from 21/05/2024



Description: HLA-B51/B52 (HLA-B5) genotype, whole blood

Method: Real-Time PCR

Result Format: R1 Result

Reference Values

Technique: DNA extraction from whole blood and subsequent amplification by real-time PCR (CE-IVD commercial method) of the HLA-B51/52 alleles, associated with predisposition to Behçet's disease, and a fragment of the HBB (ß-globin) gene used as an internal positive control.

Note: Using this procedure it is possible to detect the HLA B51 and HLA B52 alleles associated with Behçets disease.

      Version of Test: 6


Method: Multiplex PCR/Real-Time PCR

Result Format:  R1 Sample
                R2 Result

Reference Values:
Behçet's disease (BD) is a form of vasculitis which manifests with mouth and urogenital ulcers, uveitis, stereocolitis and skin and other organs inflammation. Despite its global distribution, it is more frequent in the Silk Road area (from East Asia to the Mediterranean basin), with greater prevalence in Turkey and relatively frequent in Japan and Iran.
BD is associated with HLA-B*5 antigen, encoded by the HLA-B*51 and HLA-B*52 alleles. Therefore, it is considered a risk factor strongly associated with this disease, as well as with an expression modulating effect. 
This report should be evaluated by a specialist in the context of all available clinical and family information in conjunction with other laboratory findings. Genetic counselling is recommended.

Test method
DNA extraction followed by real-time PCR amplification (CE-IVD commercial method) of  HLA-B*51/52 alleles, associated with Behçet's disease predisposition, and of an HBB gene fragment (β-globin) as internal positive control.

Test limitations
Variants other than those studied are not analyzed.
Normal/polymorphic genomic variation in the patient may interfere with variant detection in the sample.

Maldini C. et al. (2012) Rheumatology 51, 887–900
Nair J. R. et al. (2017). Clinical Medicine 17, 71
Bulur I. et al. (2017). Clin Dermatol 35, 421–434"

         Version of Test: 7

   Find the record of the test by clicking here

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