Thursday, April 25, 2024

HLA-B27 genotype, total blood

Description, Method, Result Format and Reference values Modification

Test code: 2909
Mnemonic code: B27

Effective update from 06/05/2024


Description: HLA-B27 genotype, total blood

Method: Real-Time PCR

Result format:  R1  Result

Reference Values:
Technique: DNA extraction from whole blood and subsequent amplification by real-time PCR (commercial CE-IVD method) of the HLA-B*27 gene, associated with seronegative spondyloarthropathies, and a control gene.
Explanatory note: It is present in approximately 7% of Caucasian individuals and in 89% of patients with ankylosing spondylitis. It can also be positive in 42% of patients with juvenile rheumatoid arthritis and in 79% of patients diagnosed with Reiter's syndrome.
* Source: PNT, Insert

 Version of Test: 12


Method: Multiplex PCR/Real-Time PCR

Result format:  R1  Sample
                R2  Result
Reference Values:
HLA-B27 variant is found in more than 90% of patients with ankylosing spondylitis (Morbus Bechterew). It is also present in 42% of patients with juvenile rheumatoid arthritis and in 79% of Reiter's syndrome patients. However, it is also found in 8-10% of general population, so having the HLA-B27 gene does not mean that a person suffers or will suffer from ankylosing spondylitis.
The disease mainly affects men (3 times more common than women) between the ages of 20 and 40 and it is characterized by inflammation of spine (spondylitis), large joints, fingers and feet, leading to stiffness and pain. Eye inflammation is also characteristic.
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*27 gene, associated with Beh├žet's disease predisposition, and a control gene.

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.

Caffrey MF et al. (1973) Nature. 242:121
Schlosstein L et al. (1973). N Engl J Med.
Agrawal P et al. (2024). Cureus 16(1)

      Version of Test: 13

      Find the record of the test by clicking here

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