DBS Method
The dried blood spot — small sample, powerful diagnostics.
A few drops of blood. A piece of filter paper. And the analytical power of a specialist rare disease laboratory — available from your home, anywhere in the EU.
What is a dried blood spot (DBS)?
A dried blood spot (DBS) is exactly what the name suggests: a small amount of capillary blood — collected by a simple fingertip prick — that is absorbed onto a specially designed filter paper card and allowed to dry.
Once dry, the blood spot is a remarkably stable biological sample. It does not require
refrigeration. It does not deteriorate during postal transit. It can travel from your home to our laboratory in Warsaw — whether you are in Amsterdam, Madrid, Stockholm or Bucharest — without any special handling or cold chain logistics.
This simplicity is deceptive. Behind it lies over 60 years of analytical development, and today the dried blood spot is one of the most powerful and versatile sample formats in modern medical diagnostics — used routinely in national healthcare programmes across every European Union member state.
A technique with a remarkable history
The dried blood spot technique was first developed in the early 1960s by Dr Robert Guthrie, an American microbiologist and physician whose own nephew had an intellectual disability caused by untreated phenylketonuria (PKU). Guthrie developed the DBS method specifically to enable large-scale newborn screening for PKU.
Newborn screening programmes using dried blood spots were first developed in the 1960s, inspired by the work of Dr Robert Guthrie. Tremendous technological improvements have made it gradually possible to screen for a multitude of conditions almost simultaneously, and newborn screening has firmly established its place among cost-efficient public health tools.
Today, the Guthrie card — as the DBS filter paper is still commonly known — underpins newborn screening programmes across all EU member states and beyond. Newborn screening using dried blood spots is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early treatment.
Every baby born in a European hospital has a DBS sample taken in the first days of life. This is not a new or experimental technology — it is a cornerstone of European public health infrastructure, supported and coordinated at EU level through the European Union Network of Experts on Newborn Screening (EUNENBS) and endorsed by EURORDIS — the European Organisation for Rare Diseases.
At Masdiag, we have been developing and optimising DBS-based diagnostic methods since 2012, building one of the most extensive portfolios of validated DBS assays for rare disease in Central Europe.
Why is DBS particularly valuable for rare disease diagnostics?
Patients with rare diseases face a unique set of challenges that make conventional blood testing difficult — and sometimes impossible. The dried blood spot method addresses all of these challenges — and its value is recognised at the highest levels of European healthcare policy. An expert group for EU member states has stated that newborn screening using DBS should be evaluated within the framework of a common policy within the Union.
Accessibility: A DBS collection kit can be delivered to any address in the EU. The sample can be collected at home, at any time, without any medical training required.
Minimal invasiveness: A single fingertip prick with a small lancet produces all the blood needed. The same heel-prick technique used in every European newborn screening programme is used for infant samples.
Stability and shipping simplicity: Once dried, a blood spot on filter paper is highly stable at room temperature. The analysis of dried blood spots has been used routinely for newborn screening since the early 1970s, and the number of disorders screened has expanded substantially in recent years.
Analytical power: When combined with liquid chromatography-tandem mass spectrometry (LC-MS/MS), the DBS format delivers quantitative, clinically validated results with exceptional sensitivity and specificity.
Suitable for all ages: From the first days of life to elderly patients, the DBS method is appropriate across the entire age spectrum.
The analytical technology: LC-MS/MS
LC-MS/MS is widely regarded as the gold standard technique in metabolic diagnostics. It works by separating the molecules present in a sample (liquid chromatography) and then identifying and quantifying them with extraordinary precision based on their molecular mass (mass spectrometry).
For rare disease diagnostics, this matters because:
- Sensitivity — LC-MS/MS can detect and accurately quantify metabolites present at extremely low concentrations in blood
- Specificity — the technique distinguishes between molecules of very similar
structure, eliminating false positives - Multiplexing — multiple analytes can be measured simultaneously from a single DBS sample
- Validation — LC-MS/MS methods can be rigorously validated to clinical standards
This is the same technology used in national newborn screening programmes across
Europe.
How to collect your DBS sample (step by step)
Everything you need is included in your test kit. The process takes approximately 10
minutes.
Step 1 — Prepare: Wash your hands thoroughly with warm water and soap. Warm hands improve blood flow. Dry your hands completely before proceeding.
Step 2 — Select your collection site: For adults and children: the side of the fingertip (ring finger or middle finger of the non-dominant hand). For newborns and infants: the lateral side of the heel.
Step 3 — Prick: Using the enclosed single-use lancet, press firmly against the selected site until the lancet activates. Wipe away the first drop of blood with the enclosed gauze.
Step 4 — Apply blood to the filter paper: Allow a large, round drop of blood to form. Touch the drop gently to the centre of a circle on the filter paper card. Do not smear or press the finger against the paper — allow the blood to absorb naturally. Repeat for each circle.
Step 5 — Allow to dry: Place the filter paper card on a clean, flat surface and allow to dry at room temperature for a minimum of 2–3 hours. Do not use a hairdryer or heat source.
Step 6 — Pack and send: Once fully dry, place the filter paper card in the enclosed
protective bag and then into the return envelope. Complete the sample information form and send by standard post to our laboratory in Warsaw.
Having difficulty with collection? Contact us at info@rarediagnostics.eu — our team is happy to help.
Frequently Asked Questions
Is a DBS sample as reliable as a conventional blood sample? ▼
Yes — when collected correctly and analysed using validated LC-MS/MS methods, DBS samples provide quantitative results of equivalent clinical validity to conventional venous blood samples for the analytes we measure.
Can the sample be affected during postal transit? ▼
Dried blood spots are highly stable at room temperature. Once fully dry, the sample is not significantly affected by normal postal transit conditions across the EU.
What if I make a mistake during collection? ▼
If your sample does not meet quality standards on arrival, our laboratory will contact you and arrange for a free replacement kit to be sent.
Can I collect samples for more than one person at the same time? ▼
Yes — but each person must use a separate, labelled collection card. Each test order includes one collection kit for one individual.
Recognised and endorsed by leading European institutions
EURORDIS — Rare Diseases Europe: The voice of rare disease patients in Europe. EURORDIS actively supports and advocates for the expansion of DBS-based screening. → eurordis.org
ISNS — International Society for Neonatal Screening: The global professional body for
newborn screening. → isns.info
EUNENBS — EU Network of Experts on Newborn Screening: An EU-level expert network coordinating newborn screening policy across all member states.
ERN — European Reference Networks: EU-designated networks of specialist centres for rare diseases. → ern-metabolics.eu
National newborn screening programmes: DBS screening is mandatory or standard practice for newborns in all EU member states. The technique has been in routine clinical use for over 60 years.
Scientific publications
The DBS-based methods used at rarediagnostics.eu are developed and validated by the research and development team at Masdiag Sp. z o.o. Our work is documented in peer- reviewed scientific publications.