HLA B51 Behcet's Disease Association Test

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The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

TEST METHOD

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The HLA B51 Behcet's Disease Association Test test contains 1 test with 1 biomarker.

The "HLA B51 Behcet's Disease Association Test" is a diagnostic tool designed to evaluate the genetic predisposition to Behçet's Disease through the detection of the human leukocyte antigen B51 (HLA-B51). This test has significant clinical implications, as presence of the HLA-B51 allele is strongly associated with an increased risk of developing Behçet's Disease, a complex condition that causes inflammation of blood vessels.

Methodology: This test employs the Polymerase Chain Reaction with Sequence-Specific Oligonucleotide Probing (PCR-SSOP) technique. PCR-SSOP is a highly sensitive method that amplifies DNA segments containing the HLA-B51 gene, followed by hybridization with specific oligonucleotides to precisely identify the presence of the HLA-B51 allele.

Biomarkers Included:

  • B-1 and B-2: These are primary markers that indicate the direct presence of allele variants associated with HLA-B51.
  • B-1 NMDP and B-2 NMDP: These are specialized markers used in the National Marrow Donor Program (NMDP) for a more detailed allele typing, beneficial in transplant matching and disease association studies.
  • B1 Equivalent and B2 Equivalent: These markers represent alleles that are equivalent to the B-1 and B-2 alleles in their association with Behçet's Disease, providing broader genetic context and enhancing diagnostic accuracy.

Reportable Comments: The report will include detailed interpretations of the presence or absence of the HLA-B51 allele and its equivalents, along with the clinical relevance of these findings. The report may also provide recommendations for further genetic counseling or testing if necessary, based on the results and the patient’s clinical presentation.

This comprehensive approach ensures that clinicians can better understand the genetic risks associated with Behçet's Disease, aiding in early diagnosis and potentially guiding treatment decisions.

Behçet's Disease is a chronic condition that results in inflammation of the blood vessels throughout the body. The disease is characterized by a variety of symptoms, including recurring mouth ulcers, genital sores, skin lesions, and inflammation in the eyes. Other possible manifestations include arthritis, gastrointestinal inflammation, and neurological complications. The exact cause of Behçet's Disease is unknown, but it is believed to involve a combination of genetic and environmental factors, possibly including an autoimmune response. The disease is more prevalent in regions along the Silk Road, including the Middle East and Eastern Asia, and tends to affect individuals in their twenties and thirties. Diagnosis is primarily based on clinical criteria, as there is no definitive test for Behçet's Disease. Treatment focuses on reducing symptoms and preventing serious complications, often utilizing medications that suppress the immune system.

 

Performing Laboratory
Histocompatability Laboratory UMASS Memorial Medical Center
Biotech One 365 Plantation Street, Room, B1-200
Worcester, MA 01605-2376

 

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