Eurofins Biomnis Molecular Services in Ireland

Haematology

Haemochromatosis

Real-time PCR 

The HFE gene is responsible for the disease. It is localized on the short arm of chromosome 6, near the locus of the HLA-A gene. A mutation of this gene causes the synthesis of an abnormal protein unable to interact with the transferrin receptors, favouring the transport of iron through the intestinal mucosa. The two most frequent mutations found in the HFE gene correspond to the C282Y mutation (substitution of a cysteine with a tyrosine in position 282 of the protein) and the H63D mutation (substitution of the histidine with an aspartic acid in position 63 of the protein).

Immunology

HLA-B27

Real-time PCR 

HLA-B27 is a class I surface antigen strongly associated with seronegative spondyloarthropathies, such as ankylosing spondylitis. 90% of patients diagnosed with ankylosing spondylitis (AS) test positive for HLA-B27, thus genotyping is suitable for the differential diagnosis of AS. However, only 1-2% of those who test positive for HLA-B27 develop AS. Therefore, the test is not indicated as a screening test 

Infectious Diseases

The cobas 4800 is an automated, in vitro diagnostic system from Roche Diagnostics that extracts DNA and uses real-time Polymerase Chain Reaction (PCR) for various molecular diagnostic tests such as CT/NG and HPV. 

Chlamydia Trachomatis & Neisseria Gonorrhoeae (CT/NG) DNA 

The bacteria, Chlamydia trachomatis (CT) is the second most leading cause of sexually transmitted diseases  

worldwide, causing a variety of diseases in men, including urethritis, proctitis, conjunctivitis and epididymitis and severe infection in women if left untreated, including endometriosis, salpingitis (with subsequent infertility and ectopic pregnancy) and perihepatitis. Additionally, infants from infected mothers can develop conjunctivitis, pharyngitis, and pneumonia. 

Neisseria gonorrhoeae (NG) is the causative agent of gonorrhoeae. Acute urethritis is seen in the  

majority of men with gonorrhoeae, and acute epididymitis is the most common complication, particularly  

in young men. In women, the primary site of infection is the endocervix, causing trichomonas vaginalis, bacterial vaginosis, pelvic inflammatory disease, endometriosis, tubo ovarian abscess, and pelvic peritonitis. Many women remain asymptomatic. 

Human Papillomavirus (HPV) DNA

Persistent infection with human papillomavirus (HPV) is the cause of cervical cancer and its precursor cervical intraepithelial neoplasia (CIN). The presence of HPV has been implicated in greater than 99% of cervical cancers, worldwide.  

HPV is a small, non-enveloped, double-stranded DNA virus, with a genome of approximately 8000 nucleotides. There are more than 118 different types of HPV, and approximately 40 different HPVs that can infect the human anogenital mucosa. However, only a subset of 13 to 18 of these types is considered high-risk for the development of cervical cancer and its precursor legions. Although persistent infection with high-risk (HR) HPV is a necessary cause of cervical cancer and its precursor lesions, a very small percentage of infections progress to these disease states.  

 

Sexually transmitted infection with HPV is extremely common, with estimates of up to 75% of all women experiencing HPV at some point. However, > 90% of infected women will mount an effective immune response and clear the infection in 6 to 24 months without any long-term health consequences.  

Nucleic acid (DNA) testing by PCR is a non-invasive method for determining the presence of a cervical HPV infection. The implementation of HPV DNA testing has increased the efficiency of cervical cancer screening programs by detecting high-risk lesions earlier in women 30 years and older with NILM cytology and by reducing the need for unnecessary colposcopy and treatment in patients 21 and older with ASC-US (abnormal) cytology. 

Eurofins Biomnis Invest in Technology

The Hologic PANTHER is a fully automated, high-throughput system for molecular diagnostic testing that allows multiple tests from a single patient sample. The PANTHER consolidates a wide range of molecular tests, such as for STIs, women's health, viral load, and respiratory infections, onto a single platform. 

Transcription-mediated amplification (TMA) supports the amplification of RNA targets through an isothermal reaction involving RNA samples, specific primers, reverse transcriptase, and RNA polymerase. 

The BD MAX™ System, a fully automated molecular diagnostic platform used in clinical labs for in vitro diagnostic testing. It integrates nucleic acid extraction and real-time PCR to provide rapid, accurate results for a variety of infectious diseases, such as STIs and enteric infections, helping to reduce patient wait times and improve treatment decisions.   

Meet the Eurofins Molecular Team

Loretto Pilkington - Chief Molecular Scientist

Laboratory Technicians Sarah Mc Andrew and Faye O’Neill with the BD MAX platform.

We have an experienced 6-strong molecular scientific team, led by Loretto Pilkington, Chief Molecular Scientist and advised by Prof. Margaret Hannan, Infectious Serology/Molecular Biology Consultant, Dr. Patrick Hayden, Haematology Consultant, Prof. Con Feighery, Immunology Consultant, Dr. Brian Carey, Microbiology Consultant and Prof. John O'Leary, Scientific Advisor. The team includes a Senior Clinical Scientist, Clinical Scientist and three Lab Technicians.

Resources

Visit our Molecular Primary Sample Manuals, - Infectious Disease, Haematology, Immunology, which are searchable PDF files on our website. These contain complete details of tests offered by our molecular laboratory. 

Referral Tests 

Eurofins Biomnis Ireland work closely with their sister molecular laboratory in France which allows us to offer an extensive range of additional tests for the detection of genetic and infectious diseases. If you cannot find the test on our A-Z test guide on the website, please visit our sister laboratory: 

French Test Guide: https://www.eurofins-biomnis.com/en/services/test-guide/  

For high-quality, reliable, and advanced Molecular Diagnostics in Ireland, partner with Eurofins Biomnis. Contact us today, sales@ctie.eurofinseu.com  for quotations and all technical queries.