Bekhterev’s disease – HLA-B27 haplotype

Test covered by the reimbursement:
YES
Clinical expertise code:
208
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab …
Turnover time:
3 weeks
STATIM:
3 days

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from the product of conception | 50–100 ng/μL in microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from cultured cells | 30–100 ng/μL of isolated DNA from cultured cells in a microtube (Eppendorf type)
Storage after examination: stored in the DNA archive 15°C

Quick test description:

The testing focuses on the detection of the HLA-B27 allele by real-time PCR in suspected ankylosing spondylitis (Bekhterev’s disease), reactive arthritis, juvenile rheumatoid arthritis or anterior uveitis.

Test details:

HLA (human leukocyte antigens) are molecules found on the surface of cells called tissue compatibility molecules – major histocompatibility complex (MHC). The best known is the association of HLA-B27 molecule with suspected ankylosing spondylitis (Bekhterev's disease), reactive arthritis, juvenile rheumatoid arthritis or in anterior uveitis.

Ankylosing spondylitis (Bekhterev’s disease) is a chronic, lifelong disease. The symptoms of this disease therefore gradually develop and are not the same at every stage of the disease. It is more common in men than women and the first symptoms usually appear between 18 and 30 years of age. Detection can make a significant contribution to differential diagnosis, early and targeted therapy or prevention in at-risk family members. HLA-B27 expression is found in 90% of patients with the disease, compared to only 7% in the normal population. It is tested by real-time PCR.

Indication

history of or suspected Bekhterev’s disease (as examined by a specialist – rheumatologist, orthopaedist, immunologist), unilateral anterior uveitis often associated with back pain, HLAB27 positivity in a first degree relative, family history of Bekhterev’s disease or similar rheumatic disease

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