From Inborn Errors of Metabolism to Oncology. Personalized diagnostics for better health.
Screening of the Next Generation. Complete neonatal diagnostic programs.
Dried Blood Spot cards
One Drop of Blood - Many Possibilities. Fast, easy, and safe blood sampling.
Rare Disease Diagnostics
Rare Disease Diagnostics
One Rare Disease may affect only a handful of patients, and another may touch thousands. More than 30 million people are affected.
50% of Rare Diseases affect children.
Our diagnostic services help to improve diagnosis, chance for treatment and to help families, including their children, obtain a fast and reliable diagnosis.
Visit our Rare Disease webpages to learn more about our diagnostic services focused on Rare Diseases.
Premium diagnostic services delivering reliable results for Rare Disease diagnosis using advanced analytical techniques including enzyme, biomarker, and genetic testing.
Explore our diagnostic activities in:
- Metabolic Disorders – General, Profiles
- Lysosomal Storage Disorders
- Muscle Disorders
- Leukodystrophies / Genetic Leukoencephalopathies
Biotech and Pharma
Biotech and Pharma
From routine diagnostic service to clinical studies we provide professional diagnostic support for Biotech and Pharmaceutical companies including laboratory services and development of novel diagnostic tests including biomarkers.
International Diagnostic Services
We support pharmaceutical and biotech companies in performing comprehensive (international) diagnostic services particularly in the area of rare disorders and once novel treatments are available, to raise disease awareness across borders.
We offer the set-up of all relevant processes and infrastructure from logistics, legal and marketing, to comprehensive laboratory analysis and medical reporting. Fast, reliable and high-quality services combined with cutting-edge laboratory technologies from Clinical Mass Spectrometry to Next-Generation Sequencing.
Biomarker Discovery and Testing
Every day we learn more and more on the nature of diseases. We work hand in hand with international medical and scientific experts in the discovery of new supportive biomarkers or improve existing laboratory tests using innovative technologies. Our experts in the research division are working in several global projects on the identification and evaluation of novel biomarkers in different medical fields with cutting edge technologies.
Our goal is to make biomarkers accessible for patients. Physicians and their patients shall benefit from additional supportive biomarkers for better diagnosis and/or disease monitoring. ARCHIMEDlife´s Dual Strategy is to develop biomarker tests that can be used for diagnostic purposes. Beneficial biomarker tests shall not stay on a research level. Our Development Division (ISO 13485 certified) has all requirements and expertise to validate and certify biomarker tests to make them accessible for patients in a daily routine laboratory.
Development and Certification of Novel Diagnostic Assays
Novel biomarker or an innovative diagnostic test on the horizon but still on “research use only” (RUO) level and not validated?
Our Development Division is fully ISO 13485 certified, and we have all necessary regulatory and legal processes in place to validate, certify, register and release any diagnostic assay for the in-vitro diagnostic (IVD) market, or use it in our highly-specialized clinical routine laboratories for your diagnostic project.
The diagnostic market is changing with personalized medicine and novel treatments that become available for e.g. rare disorders or in oncology. So, innovative and better diagnostic assays are needed to characterize patients and their disease, or to monitor progression of disease without or under treatment.
Diagnostic Support in Clinical Studies
We offer hiqh-quality services with our strong experience for Clinical Studies and Academic Research.
Our team is well experienced in both biochemistry and genetics applied in medical studies and research projects. Our laboratory is equipped with state-of-the-art technologies from Clinical Mass Spectrometry to Next-Generation Sequencing including qualified instruments, and our highly-experienced team will support you from planning to execution of your study.
We provide clinical services including:
- Sample management
- Pre-analytical sample work-up and processing
- Assay development and validation
- Development of quality control materials and quantification strategies
- Qualitative and quantitative measurement of metabolites, proteins using Clinical Mass Spectrometry, Immunoassays or cell and bead-based flow cytometry
- Genetic testing from Sanger to Next-Generation Sequencing (NGS) including whole-exome sequencing (WES) and whole-genome sequencing (WGS)
- Support in bioinformatic and statistical data analysis
From research to bedside, we pursue translational research. From biomarker discovery, high-throughput metabolic screening to the optimization and development of novel laboratory assays. Our Research Division has profound experience to support your research activities with cutting-edge technologies.
We are your industrial partner with a highly experienced team and laboratory instruments for your academic research activities. We have started ARCHIMEDlife Research Institute as an initiative for “bench to bedside” medical research. We combine several strategies in translational research to advance progress from laboratory discovery to application, and final access for patients. A research process involves clinicians and researchers working together to solve health challenges faster.
Apply for a research grant? Increase your chance by collaborating with us – a service partner with a highly experienced research team and cutting-edge technologies. We have conduced successfully dozens of studies, and supported research teams worldwide with analytical services.
Several translational research projects are underway at ARCHIMEDlife Research Institute, including:
- Biomarker research for Lysosomal Storage Disorders and others for Rare Disorders
- Hemoglobinopathies – Better characterization using HR/MS
- Metabolites involved in oncology
- Optimizing the work with small sample volumes and multiplexing different technologies to avoid subsequent blood sampling for confirmatory and follow-up testing
We have several Mass Spectrometry instruments (e.g. SCIEX 6500 QQQ, Thermo Fischer Scientific Orbitrap TM) for quantification of small molecules and discovery of novel biomarkers.
We are highly experienced in the development of novel genetic tests using state-of-the-art molecular biology methods including Next-Generation Sequencing. We support your biochemical research by genetic testing for e.g. genotype-phenotype metabolic diseases studies or tumor biology.
Our –OMICS Plattform
We offer complete laboratory services (sample management, measurement and bioinformatics) for Small Molecule and Protein Profiling.
Contact us to learn more about our dozens of assays for amino acids and metabolic breakdown molecules, acylcarnitines and fatty acids, steroids, peptides and many more.
BIOCRATES Life Science Kits: We are a laboratory service partner for metabolic profiling using BIOCRATES AbsoluteIDQ® p180 Kit. This Kit quantifies up to 188 metabolites from 5 substance classes (hexose, amino acids, biogenic amines, lipids and acylcarnitines), giving the most comprehensive overview of metabolism in a single assay. It has proven to provide highly accurate and highly reproducible information on the metabolic phenotype used in diverse applications such as Cardiometabolic Diseases, Neurology, and Oncology.
Identifying relevant biomarkers is to find a needle in a haystack. Nonetheless, biomarkers become more and more important in diagnostic applications, to help to detect or to predict diseases. Biomarkers are mandatory to move towards a more personalized medicine. Highly disease-specific biomarkers hold great promise to monitor progression of disease of patients without or under therapy.
We, at ARCHIMEDlife Research Institute, put significant effort into the discovery and testing of novel biomarkers.
07 May 2021
In January, the amedes group called on their employees to nominate charitable organizations to be supported by the amedes group in the future. The overwhelming…
10 March 2021
About CTX: CTX (cerebrotendinous xanthomatosis) is a rare and serious disease of bile acid metabolism with an estimated incidence of about 1:50,000. The disease is…
21 December 2020
We are pleased to announce the release of our updated and streamlined website. You can find all the relevant information on our available diagnostic services…
14 December 2020
At ARCHIMEDlife, our focus continues to be on Rare Diseases and special diagnostics. Since March 2020, COVID-19 has challenged us all both personally and professionally.…
07 December 2020
Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders affecting lysosomal metabolism. MPSs result in the accumulation of glycosaminoglycans in the body and can…
15 March 2020
We stay open for you and your patients! We used the last days to prepare us to continue our work and services on the highest…
"Started in 2013, our commitment is to provide better and faster high-quality tests for you and your family."
Our diagnostic laboratory is offering services from Clinical Mass Spectometry to Next-Generation Sequencing. We have international collaborations with physicians, clinical researchers and industry specialized in personalized healh care.
We are dedicated to the development of novel laboratory tests to make actionable health information accessible at the time it matters.
Contact me about your ideas and let me know you think we can improve laboratory services together.
13 August 2021
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected,…
01 April 2021
Biomarkers in Rare Diseases play a dual and significant role in supporting improved clinical outcomes. In Fabry Disease (FD), the glycosphingolipid globotriaosylceramide (Gb3/GL-3) and its…
01 March 2021
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Introduction Metachromatic leukodystrophy (MLD) is a rare, fatal autosomal-recessive…