About Us

We believe every rare disease deserves a precise diagnosis.

For patients, families and clinicians across Europe and worldwide — accessible, home-based diagnostics powered by over a decade of laboratory excellence.

 

Who we are

Rarediagnostics.eu is a specialised diagnostic platform dedicated to patients living with rare and ultra-rare diseases. We exist because people with rare conditions too often face a painful paradox: their disease is complex, yet the diagnostic tools available to them are limited, distant, or simply inaccessible.

We are powered by Masdiag Sp. z o.o., a registered medical diagnostics laboratory (podmiot leczniczy) founded in May 2012 and based in Warsaw, Poland. Operating under Polish and European Union medical regulations, Masdiag has established itself as a centre of excellence in analytical chemistry — combining commercial diagnostics with active scientific research to develop cutting-edge diagnostic methods.

Although rarediagnostics.eu is designed with European patients and clinicians in mind, our laboratory receives and processes samples from clients around the world. Wherever you are, if you need specialist rare disease diagnostics — we can help.

Our work is guided by three principles:

Innovation · Knowledge · Practice

We develop innovative diagnostic methods, transform them into scientific knowledge, and bring that knowledge into clinical practice — for the benefit of patients who need it most.

Our expertise in rare disease diagnostics

Rare diseases affect approximately 8 to 10% of the European population, yet the majority of patients wait an average of 5 to 7 years before receiving a correct diagnosis. Many of these conditions — particularly inherited metabolic disorders, organic acidemias, and aminoacidopathies — can be identified through precise biochemical testing. Early diagnosis can be life-changing.

Since 2012, our laboratory has analysed over 500,000 dried blood spot (DBS) samples, building one of the most extensive bodies of rare disease diagnostic data in Central Europe. This experience forms the scientific foundation of everything we offer at rarediagnostics.eu.

The DBS advantage - diagnostics without borders

At the heart of our service is the Dried Blood Spot (DBS) method — a simple, minimally invasive technique in which a few drops of capillary blood are collected from a fingertip and absorbed onto a special filter paper card.
This approach transforms rare disease testing:

• No clinic visit required — collect your sample at home, at any time
• Suitable for all ages — including newborns (heel prick) and elderly patients
• Stable sample — dried blood spots remain stable for transport across Europe and worldwide
• Clinically validated — our methods are developed and optimised in-house using mass spectrometry (LC-MS/MS), the gold standard in metabolic diagnostics

Whether you are in Warsaw, Berlin, Paris or Lisbon — our diagnostic kits reach you, and your results reach your doctor.

Who we serve

Rarediagnostics.eu is designed for three groups of people united by a common need answers.

Patients and families

If you or your child has received a suspected or confirmed diagnosis of a rare metabolic disorder, or if you are still searching for a diagnosis after years of uncertainty — our tests offer a precise, accessible path forward. No referral is needed to order a test kit.

Specialist clinicians

For metabolic physicians, clinical geneticists, neurologists and paediatricians seeking reliable biochemical confirmation or disease monitoring for their patients — our laboratory provides validated, quantitative results with full analytical documentation.

Researchers

Our laboratory actively collaborates with universities and academic medical centres in Poland and internationally. If you are conducting research involving rare metabolic conditions, DBS methodology, or novel biomarker discovery — we welcome partnership enquiries.

Academic and scientific collaboration

Science is at the core of what we do. Masdiag maintains active research collaborations with universities and academic institutions in Poland and abroad, contributing to the development of new diagnostic methods and the advancement of knowledge in rare metabolic disease.

ADD UNIVERSITY NAMES HERE when list is available from the client.

Our Research and Development team publishes findings in peer-reviewed scientific journals and participates in EU-funded research programmes. We believe that the bridge between laboratory science and clinical practice is not just useful — for patients with rare diseases, it is essential.

If you represent a research institution and are interested in collaboration — in method development, sample analysis, biomarker research, or clinical studies involving DBS — we invite you to contact us directly.

Our laboratory standards

Masdiag is a registered medical entity (podmiot leczniczy) operating in compliance with Polish and EU healthcare regulations. All diagnostic analyses are performed using liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) — a technique offering exceptional sensitivity and specificity for metabolic biomarkers at trace concentrations.

Our proprietary methods are developed entirely in-house by our analytical chemistry team — not outsourced, not generic. Each method undergoes rigorous validation before clinical deployment, ensuring the reliability that patients and clinicians depend on.

Why rarediagnostics.eu?

• 12+ years of specialised laboratory experience
• 500,000+ DBS samples analysed worldwide
• Rare disease focus — specialist laboratory, not a generalist provider
• Worldwide sample acceptance — we process samples from clients globally
• Home-based collection — no hospital or clinic visit required
• Academic partnerships — active collaboration with universities in Poland an
  internationally
• Registered medical entity — operating under Polish and EU medical regulations
  
• Scientific transparency — peer-reviewed publications available

Our Story

“Those who follow the crowd will never go further than the crowd. Those who walk alone may find themselves in places no one has ever been.”

— Alan Ashley-Pitt

This quote, displayed on the wall of our laboratory in Warsaw, reflects the spirit with which Masdiag was founded on 8 May 2012. While most diagnostic laboratories focused on high-volume routine testing, we chose a different path — to invest in the complex, the rare, and the scientifically demanding. Rarediagnostics.eu is the next step on that path: bringing our expertise directly to the patients and clinicians who need it most, wherever they are in the world.

 

The diagnostic services on this website are in vitro diagnostic tests intended to provide quantitative information on specific biochemical biomarkers. All results should be interpreted by a qualified healthcare professional. These services do not replace medical consultation, diagnosis, or treatment. Rarediagnostics.eu is powered by Masdiag Sp. z o.o., a registered medical laboratory (podmiot leczniczy) operating under Polish and EU healthcare regulations.

Get In touch

We are happy to answer questions from patients, clinicians, researchers and institutional partners alike.

• info@rarediagnostics.eu
• masdiag@masdiag.pl
• masdiag.pl
• Masdiag Sp. z o.o., ul. Żeromskiego 33, 01-882 Warsaw, Poland