New tests
PD-L1 testing now available for free!
Under the Early Access to Medicine Scheme, Viapath is able to offer PD-L1 testing for the Merck, Sharp and Dohme (MSD) drug KEYTRUDA when it is being used for the treatment of non small cell lung cancer.
Initially the PD-L1 test is being funded by MSD who will pay for all tests referred to Viapath. This means that, until approval from NICE, this test will be free to the originating hospital.
PD-L1 is an immune-related biomarker that is expressed on tumour cells in various tumour types, including Non Small Cell Lung Cancer (NSCLC). Assessing PD-L1 expression in squamous and non-squamous NSCLC may contribute to a better understanding of a patient's tumour and KEYTRUDA is indicated for the treatment of patients with metastatic NSCLC whose tumours express PD-L1.
PD-L1 expression helps identify patients that are most likely to benefit from KEYTRUDA
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The Red Cell Gene Panel (RCGP) is a targeted next generation sequencing based assay to test for pathogenic mutations in genes known to be involved in red blood cell disorders. The RCGP is divided up into sub-panels of genes, which address specific pathologies of the red cell;haemoglobinopathy, enzymopathy, membranopathy, congenital dyserythropoietic anaemia, congenital erythrocytosis, sideroblastic anaemia, megaloblastic anaemia, Diamond-Blackfan anaemia, Porphria, disorders of iron metabolism, bone marrow failure and haemolytic uremic syndrome.
The sub-panels may be analysed separately or in combination depending on the phenotype of the patient. Single gene analysis is also available where the patient has a specific phenotype at presentation. The genes included in each sub-panel is listed in the document attached below.
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Vascular endothelial cells and platelets contain ultra-large VWF multimers that are highly adhesive. However, they are only transiently detectable in plasma as they are cleaved by the circulating protease ADAMTS-13 (A zinc and calcium dependent Disintegrin and Metalloprotease with ThromboSpondin type 1 motifs, member 13), also known as VWF-cleaving protease. ADAMTS-13 degrades the ultra-large multimers into smaller forms ranging in size from 500 to ~20000kD.
Deficiency of ADAMTS13 leads to a condition called thrombotic thrombocytopenic purpura (TTP), which can be either congenital or acquired. In congenital TTP, also known as Upshaw-Schulman syndrome, mutations cause deficiency of ADAMTS13 which generally affects synthesis or secretion of the enzyme rather than causing production of dysfunctional molecules.
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Everolimus helps prevent immunological rejection of the transplanted organ by inhibiting the protein mTOR which is an important regulatory protein in the cell cycle. By preventing cells of the immune system growing and dividing, there is less chance that they will be able to raise an immunological response against the transplanted organ. By the same mechanism, Everolimus can also be used in the treatment of some cancers, including pancreatic neuroendocrine tumours and breast cancer, as inhibition of mTOR and the cell cycle in cancer cells will prevent further growth and spread of the tumour.
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Is a member of the interleukin-1 (IL1) receptor family and exists in two key isoforms:ST2L (a membrane-bound receptor) and sST2 (a soluble form found in the bloodstream).
The response of healthy cardiac tissue to injury or mechanical stress involves the production and binding of interleukin-33 (IL-33) to ST2L, which stimulates a cardioprotective signalling cascade that defends against fibrosis, cardiac remodeling and the development of heart failure.
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Fetal genetic material (DNA) is present in the circulation of a pregnant woman; a maternal blood sample can be analysed in order to determine if there are missing or extra chromosomes (aneuploidies) in her fetus.
Extra chromosomes are related to conditions in pregnancy such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome).
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Diagnostic testing for Myeloproliferative Neoplasms (MPNs) has been significantly improved since the introduction of testing for JAK2 and MPL mutations. However, JAK2 and MPL are only present in about two thirds of MPN diagnoses; at Viapath we have developed a new test that provides diagnostic support for the remaining third.
We have recently discovered that there are recurrent mutations in the gene encoding calreticulin (CALR) in a majority (70-85%) of MPN patients without JAK2 or MPL mutations. In addition CALR mutations in Essential Thrombocythaemia (ET) and Primary MyeloFibrosis (PMF) patients have been shown to be associated with lower haemoglobin, higher platelet counts, lower risk of thrombosis and a better overall survival than patients with mutated JAK2.
CALR mutation screen offers a complementary test to improve the differential diagnosis of Myeloproliferative Neoplasms, and compliments our existing profile: JAK2 V617F, JAK2 exon 12, and MPL exon 10.
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A comprehensive testing service for anti-TNFα drugs has been introduced at The Reference Chemistry Laboratory at Viapath, based at St Thomas’ Hospital.
This is the first service available for anti-TNFα and anti-drug antibody testing in the UK. Developed in collaboration with the Gastroenterology and Dermatology clinical teams at Guys’ and St Thomas’ trust, the measurement of anti-TNFα drugs and anti-drug antibodies allows clinicians to personalise therapy for better patient care and associated savings on drug costs.
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The majority (up to 80%) of circulating vitamin B12 is biologically inactive. The biologically active form (holotranscabalamin or HoloTC) represents ~20% of the total reservoir of Vitamin B12. Current assays that measure total vitamin B12 can lead to an inaccurate assessment of a patient’s B12 status, and can hide a true picture of B12 insufficiency. Conversely patients can inappropriately be classified as deficient when in fact they have normal levels of Active B12.
Viapath has pioneered a new approach to the assessment of Vitamin status, combining paired static and dynamic markers to gain a better understanding of a patient’s Vitamin status and metabolism. MMA is a marker of Vitamin B12 metabolism, high levels indicating possible impairment of metabolism of B12, leading to B12 insufficiency.
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Faecal Calprotectin offers a non-invasive method for the differential diagnosis of Inflammatory Bowel Disease (IBD) and Irritable Bowel Syndrome (IBS). The test has the potential to reduce the need for invasive techniques such as colonoscopy or radio-labelled white cell scanning.
Viapath offers a referral testing service within 7 working days.
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Last updated: 30/09/2013
