Health care providers require fast, reliable and robust answers to guide patient treatment decisions. We offer diagnostic services to meet your needs and develop laboratory based testing (LBT) services to solve current gaps in the diagnostic field. A digitalised HER2 test is developed as an LBT service and currently investing in commercialisation to reach your diagnostic labs. Using our optimised Innoplex system we offer multiplex assays for clinical diagnostics. In addition we also serve the academic research area with research use only reagents and becoming our partner in developing new test protocols is embraced by our professional research department.
Clinical Portfolio
HER2 positive confirmatory test
Using our optimised Innoplex technology, HER2 expression is detected in equivocal cases of breast cancer HER2 with an IHC score of 2. The assay is performed in 3 days upon sample delivery, hence reducing the waiting time for HER2 amplified patients to be provided with the targeted therapy, trastuzamab or equivalent.
Microsatellite instability (MSI) in tumour samples.
Detection of 8 MSI markers by real time PCR. Comparison with normal tissue or blood is not necessary for the analysis of results.
PGx: Companion diagnostics
Various real-time PCR tests are available for analysis of genes associated with therapeutic outcome. Samples include fresh, frozen, FFPE tissues and plasma or cytological samples.
PGx KRAS to detect exon 2, 3 and 4 actionable mutations.
PGx BRAF to detect codon 600 actionable mutations.
PGx EGFR to detect exons 18,19,20,21 actionable mutations.
PGx NRAS to detect exons 2, 3 and 4 actionable mutations.
PGx ALK, ROS1, RET, MET to detect main chromosomal translocations in ALK, ROS1, RET and the MET exon 14 skipping.
PGx Thyroid to detect main mutations in exon 2,3 of KRAS, NRAS, HRAS genes and codons 600 and 601 of BRAF gene.
PGx Thyroid Fusion to detect chromosomal translocations involving RET fusions.
PGx: Drug Therapy management
PGx DPYD to detect DPYD gene polymorphisms associated with Fluoropyrimidines toxicity. A whole blood sample is required.
PGx UGT1A1 to detect UGT1A1 gene polymorphisms associated with irinotecan toxicity.
Early diagnosis of Colorectal cancer
Quantitative determination of long (>200bp) DNA fragments from faeces samples used for CRC screening. This test support screening and improve CRC early diagnosis.
Diagnosis of Gastro Intestinal stromal tumours (GIST)
Mutation analysis of exons 9, 11, 13 and 17 of the PDGFR and exons 11, 13 and 17 of the c-Kit gene provide GIST diagnosis and predict response to targeted therapies. We provide mutation screening panel using real-time PCR.
Diagnosis of Leukemias
Haematological malignancies are characterised by common chromosomal translocations that can be measured using real-time PCR as a diagnostic workflow and also to manage the patient for minimal residual disease. We offer most of the common translocations in leukemias including (but not limiting to) AML1-ETO, E2A-PBX1, MLL-AF4, PML-RARA, TEL-AML1, CBFB-MYH11 and more.
NGS carrier screening
Screening of more than 500 genes (15,000 variants) to detect carrier of an inherited genetic disease, including Duchenne muscular Dystrophy, Cystic fibrosis, Spinal Muscular Atrophy, glycogen storage disease and more . At least 600 genetics disorders are screened from saliva or peripheral blood sample.
Purpose: screening of inherited disorders for couples planning a pregnancy (can be ordered before or during pregnancy)
Technology: NGS sequencing
Response time: 3 weeks from sample delivery
NGS newborn genetic screening
Babies born with genetic defects are not identified before serious and potentially irreversible symptoms arise. Detecting a disease at an early stage provides the opportunity for appropriate and timely medical intervention. The assay screens for more than 80 inherited disorders and for adverse reactions to more than 30 paediatric drugs.
Purpose: For early detection of genetic disease and to predict adverse reaction on paediatric drugs.
Technology: NGS technology
Response time: 3 weeks from sample delivery
NGS Hereditary Cancer Screening
A full panel of clinically relevant mutations (Single Nucelotide variants, Indels and copy number variation) provides information on more than 45 genes that are associated with different types of hereditary cancers including breast cancer, ovarian cancer, colorectal cancers and other cancer from different origins (around 17 different types in total).
Purpose: Individuals referred to genetics clinic due to suspected family history.
Technology: Target-capture and high-throughput sequencing.
Response time: 3 weeks from sample delivery
NGS Cancer Therapy prediction panels
Our research team have a pipeline of cancer-related actionable genomic alterations including fusions, copy number variations, insertions and deletions and nucleotide variants. Various panels are available for clinical support including lung cancer and colorectal cancer. The precision medicine panels utilise tissue (fresh frozen or FFPE) and peripheral blood as a control. It is our goal to provide these panels for liquid biopsies (from peripheral blood) in the near future.
Purpose: Cancer precision medicine panels provide information on genes with direct therapeutic implications.
Technology: Target-capture and high-throughput sequencing.
Response time: 3 weeks from sample delivery
NGS Targeted Drug Therapy panel
Measure mutations in all exons and selected introns of more than 200 genes with direct therapeutic implications for more than 90 targeted therapies in oncology. A variety of samples can be used including fress tissue, biopsies, FFPE, DNA and peripheral blood.
Purpose: Prediction of therapeutic efficacy and toxicity in the oncology field.
Technology: Target-capture and high-throughput sequencing.
Response time: 3 weeks from sample delivery
Infectious: HPV genotyping
HPV genotyping using real time PCR to detect 15 High-risk HPV types (HPV 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, 68, 73, 82); 2 Common High-risk HPV types (HPV 16, 18) and 6 Low-risk HPV types (HPV 6, 11, 42, 43, 44, 81) for cervical cancer screening and referred cases. Liquid-based cytology system (e.g. ThinPrep® – Hologic, SurePathTM – BD, Roche Sample Collection Kit – Roche) can be used.
Infectious: qPCRs for pathogen testing
A vast range of real time PCR tests and panels are available for infection disease testing. The test include, but not limited to:
- 3-in-1 Detection of Sexually Transmitted Diseases (Chlamydia trachomatis, Neisseria gonorrhea, Ureaplasma urealyticum) from urine and cervical sample.
- detection of influenza A virus, influenza A(H1N1) swl virus, influenza B virus, human rhinovirus, human coronavirus NL63, 229E, OC43 and HKU1 ; human parainfluenza 1, 2, 3 and 4 ; human metapneumoviruses A/B, human bocavirus, human respiratory syncytial viruses A/B, human adenovirus, enterovirus, human parechovirus, Mycoplasma pneumoniae and internal control
- detection of Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis, Staphylococcus aureus, Mycoplasma pneumoniae, Chlamydophila pneumoniae, Legionella pneumophila/ longbeachae and internal control
- detection AND quantification of Bordetella pertussis, Bordetella parapertussis and internal control
- detection of Legionella pneumophila/ longbeachae and internal control
- detection of norovirus GI and GII, human astrovirus, rotavirus, human adenovirus, sapovirus and internal control
- detection of Campylobacter coli/jejuni/lari, Clostridium difficile, enterohemorrhagic E. coli vtx+, Salmonella spp., Shigella spp., enteroinvasive Escherichia coli, Yersinia enterocolitica iand internal control
- detection of Clostridium difficile and internal control
- detection of herpes simplex virus 1 and 2, varicella zoster virus, mumps virus, enterovirus, human parechovirus and internal control
and many more. Send us an email with the required infectious disease test.
HLA Typing
HLA typing is available on Luminex platforms.
Coming soon: Non invasive prenatal screening
Academic portfolio
Innoplex: Breast Cancer Molecular Classification assay
A luminex based assay for the molecular classification of breast cancer into Luminal and basal subtypes; receptor status and other molecular markers including epithelial-mesenchymal transition and metastatic markers.
NGS Cancer precision medicine
A discovery panel designed to identify actionable genetic alterations across more than 500 cancer-related genes. Result interpretation includes associations with pharmacogenomics information on more than 100 cancer therapeutics approved by FDA or under clinical trials.
NGS exome sequencing
Send your request for our introductory offer on business@biotech-innovations.eu and include in the subject “medlab19”