Healthcare Professionals

We support healthcare professionals with a variety of laboratory diagnostics services to detect (rare) diseases fast.

Your partner for specialized laboratory diagnostics.

Biochemical, Biomarker and Genetic testing for Rare Diseases and beyond. From Inborn Errors of Metabolism to Oncology.

Our complete Parameter Catalogue is available now via our WEBPORTAL: Please sign-up here at (for physicians only).

We provide diagnostics using a Dried Blood Spot (DBS) card for most of our tests. Contact us:

Why choose ARCHIMEDlife as your diagnostic laboratory partner?

  • Wide range of highly-specialized biochemical and genetic tests available
  • Highly-experienced team working internationally together with Health Care Professionals
  • High-quality testing including highest laboratory standards (according to ISO 15189 with Accreditation # 0407, Akkreditierung Austria)
  • Efficient processes and full medical reporting

Contact us for information about any laboratory tests: We are continually expanding our parameter catalogue.

Stay in touch with us and register for our ARCHIMEDlife Newsletter.

Please see below for our current services or contact us for any other laboratory test.


Inborn Errors of Metabolism

We are dedicated to providing diagnostics for Rare Disorders and continuously improving and expanding our services.

We offer diagnostics for:

Lysosomal Storage Disorders: Enzymatic and genetic testing including biomarkers. Click here for our comprehensive LSD diagnostic panel.

Mucopolysaccharidosis Panel: A novel enyzme test plus genetics using one drop of blood. Click here for more information.

Fabry Program: Enyzme and genetic testing plus biomarker testing for Lyso-GL-3 (Lyso-Gb3). Click here for more information.

Gaucher Program: Enzyme, genetic and biomarker testing for Gaucher disease plus Niemann-Pick A/B (ASMD) and acid Lipase deficiency (Wolman; LAL-D). Click here for more information.

Neuronal Ceroid Lipofuscinoses: Enzymatic and genetic testing using a single Dried Blood Spot card. Click here for more information.

Gangliosidoses: Enzymatic and genetic testing using a single Dried Blood Spot card. Click here for more information.

Cerebrotendinous Xanthomatosis. Novel diagnostics including biochemical (small molecule) and genetic confirmatory testing. Click here for more information.

Amino acid and Acylcarnitine profiles for Aminoacidurias, Organoacidurias and Fatty Oxidation Metabolism.

Biochemical tests. From Methylmalonic to Homocysteine.

Genetic panel for confirmatory testing. We offer a broad spectrum with our experts to provide you all the genetic information you need.

(Dietary) Monitoring. Follow-up testing using Dried Blood Spots or other body fluids.


Babies’ Health

The early detection of diseases can be life-saving and lead to best clinical outcome. We offer advanced Newborn Screening programs and tests including confirmatory testing.

  • Basic Program: A carefully tailored test panel of inborn errors of metabolism and other rare disorders. An exceptional approach to Newborn screening and superior to many screening programs around the world.
  • Premium Program. Extends our Basic Program with several additional focused disorder programs which are customizable to benefit the health of the baby.

In more complicated cases where a baby needs more than one of our standard screening options, we offer:

  • Biochemical 2nd tier testing
  • Monitoring
  • Genetics: A complete genetic program for confirmatory testing.

Nearly all can be performed using the initial Dried Blood Spot card.

Find out more about our Newborn Screening Programs. Click here.

Single programs available:

  • Lysosomal Storage Disorders: Enzymatic, Biomarker and Genetic confirmatory testing for dozens of diseases. Click here.
  • Spinal Muscular Atrophy (SMA): Determination of SMN1 and SMN2 copy number, and gene sequencing.
  • Severe Combined Immunodeficiency (SCID): A complete program including TRECs, KRECs and ADA-SCID. Click here.
  • Cystic Fibrosis
  • X-ALD: Click here for more information.
  • Congenital Adrenal Hyperplasia: Newborn screening to genetic testing. Click here for more information.
  • and many more…


Inherited Cancer

We offer comprehensive genetic testing for inherited cancer genes. You may choose for testing of:

  • A specific known mutation in a family (also available for Dried Blood Spot filter paper cards)
  • Testing of all major cancer genes of your choice
  • Testing of comprehensive panels (e.g. BRCA1 & 2 and further 24 genes in hereditary breast/ovarian cancer)


Cancer Personalized Medicine

We provide molecular profiling of your tumor samples. You may send paraffin-embedded tumor tissue (FFPE) or circulating-free tumor DNA in peripheral blood samples (liquid biopsy). We offer testing of all major cancer genes, gene panels and exome sequencing (all genes).

We also offer CYP2D6 testing to determine metabolizer status.


Clinical Chemistry

We are specialized in Clinical Mass Spectrometry and continuously expand our parameters. We are currently offering:

  • Ethylglucuronide and Ethylsulfate in urine, plasma and serum: These parameters are relatively new, but specific parameters for the assessment of alcohol consumption
  • 25-OH-Vitamin D2/D3 in plasma and serum including C-3 epimeric form of 25-OH-Vitamin D3 (3-epi-25-OH-Vitamin D3) to avoid potential false high analytical Vitamin D values
  • *New* Therapeutical Drug Monitoring (TDM). Please click here:TDM (in German)

Stay in contact with us and we keep you informed on our list of parameters, you can also register for our monthly ARCHIMEDlife newsletter.

How to order a test

As a reliable laboratory diagnostic partner we provide Health Care Professionals with a complete testing kit and an easy ordering process.

Please send your request to and get your free sample including the DBS card, infosheet and the Informed Consent Form.
Make sure to include the following information for us for a faster handling:

  • Name
  • Disease and/or test request
  • Any relevant information
  • Your contact information

For fast, easy and secure reporting of your test results, please register at ARCHIMEDlife WEBPORTAL.


Diagnostics ・Clinical Studies・Patients’ Care