Human genetics – our solutions

Approximately 17% of pregnant women in Germany are Rhesus D-negative. If the fetus is Rhesus D-positive the pregnant woman can develop antibodies against the fetus and there may be complications. Therefore, currently all Rhesus D-negative pregnant women get immunoglobulins as Rhesus prophylaxis.

Now, through the use of modern non-invasive molecular fetal diagnostics via real-time PCR typing, pregnant women can have their blood tested for the Rhesus D status of the unborn child. Since July 2021, this molecular genetic prenatal determination has also been included as a health insurance benefit in Germany.

With the new FastQ^® RHD fetal kit, dedicated anti-D prophylaxis is possible. The kit reliably detects the Rhesus D status of the fetus: 3 exons of the RHD gene are examined by real-time PCR analysis. By detecting the three exons 5, 7 and 10, the probability of a false negative result is extremely minimized.

Treatment with antiretroviral drugs containing the active substance Abacavir (mainly in HIV therapy) is only allowed when the existence of HLA-B^*57:01 is excluded by molecular genetic methods, since otherwise it is possible that a hypersensitivity reaction against Abacavir may occur.

Behcet’s disease is a chronic vasculitis characterized by recurrent oral ulcers, genital ulcers, ocular and skin involvement, and other multisystemic symptoms. Despite a worldwide distribution Behcet’s disease clusters in an area from eastern Asia to the Mediterranean basin. HLA B^*51 is a strong risk factor for the disease and can be used as a diagnostic tool.

There is a strong association between HLA-B27 and a group of seronegative arthritic diseases like Morbus Bechterew or Morbus Reiter. Determination of HLA-B27 is an important tool in the diagnosis of these diseases. All common and well documented (CWD) alleles, as well as most of the rare alleles are detected by our kits. Moreover, the non-associated alleles B^*27:06 and B*27:09 can be differentiated with our real-time PCR kit FastQ^® B^*27.

Especially in the case of unclear suspicion of Bechterew's disease, a reliable HLA-B^*27 diagnosis makes a decisive contribution to the therapy of a patient.

Coeliac disease is an autoimmune reaction triggered by gluten which is an ingredient of different cereals. If not diagnosed early this leads to chronic inflammation and destruction of the small intestine.

Coeliac disease is strongly associated with the DQA1^*05- DQB1^*02 and DQA1^*03-DQB1^*03:02 haplotype. Additionally, DR3, DR7 and DR11 alleles can be used as genetic markers. Carriers of HLA predisposition alleles probably have an up to 40 times higher risk of developing celiac disease. The confirmed diagnostic results of the HLA-DQ haplotypes make an important contribution to the therapy of a patient.

Narcolepsy belongs to a group of sleeping disorders (Dyssomnias) with symptoms like daytime somnolence, sleep paralysis and hallucinations. 98 % of the Caucasian patients with narcolepsy have the DRB1^*15:01 – DQA1^*01:02 – DQB1^*06:02 haplotype. Therefore, HLA typing is helpful to confirm or exclude a diagnosis.