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 a small amount of capillary blood absorbed onto a specially designed filter paper card and allowed to dry. For adults and older children, capillary blood can usually be collected by a simple fingertip prick using the lancet supplied with the collection kit.
Once properly collected and dried, DBS samples are well suited to transport and storage. Many analytes remain sufficiently stable at room temperature to allow samples to be transported without refrigerated shipping, provided that the sample is correctly dried, packaged and handled according to the instructions supplied with the test.
This means that a DBS sample can travel from your home to our laboratory in Warsaw — whether you are in Amsterdam, Madrid, Stockholm or Bucharest — without the need for conventional refrigerated transport.
Behind this apparent simplicity lies more than 60 years of analytical development. Today, dried blood spots are a widely established sample format in medical diagnostics and are routinely used in newborn screening programmes throughout Europe and worldwide. PubMed Central (PMC)
A technique with a remarkable history
The dried blood spot technique became established in newborn screening in the early 1960s through the work of Dr Robert Guthrie, an American physician and microbiologist who developed a simple and inexpensive method for screening newborns for phenylketonuria (PKU).
Guthrie’s approach involved collecting a small amount of blood from a newborn’s heel onto filter paper and analysing the dried sample for elevated phenylalanine. This made large-scale newborn screening practical and helped establish PKU as the first disorder routinely included in population-based newborn screening programmes. NICHD
Over the following decades, technological advances made it possible to test dried blood spots for an increasing number of conditions. The introduction of tandem mass spectrometry further expanded the range of metabolic disorders that could be screened simultaneously from a small DBS sample. NCBI
Today, dried blood spot collection remains a core component of newborn screening programmes across Europe and many other parts of the world. The number and type of disorders included in national screening programmes vary between countries, but DBS remains one of the principal sample formats used in this area.
At Masdiag, we have been developing and optimising DBS-based diagnostic methods since 2012 and have analysed more than 1 million dried blood spot samples.
Why is DBS particularly valuable for rare disease diagnostics?
Patients with rare diseases can face significant geographical and logistical barriers to accessing specialised laboratory testing. Many diagnostic methods are available only in a limited number of specialist laboratories.
The dried blood spot format can help overcome some of these barriers by allowing a small capillary blood sample to be collected remotely and transported to a specialist laboratory.
Accessibility: A DBS collection kit can be delivered to addresses across the EU. For adults and older children for whom fingertip collection is appropriate, the sample can be collected at home using the fingertip lancet included in the kit, without the need to visit a blood collection centre.
Minimal invasiveness: Only a small volume of capillary blood is required. A few drops collected from a fingertip can provide sufficient material for specialised laboratory analysis.
Stability and shipping simplicity: Properly collected, dried and packaged DBS samples can be suitable for transport at ambient temperature. The required stability conditions depend on the analyte and analytical method, and the samples should always be handled according to the instructions supplied with the test.
Analytical power: When combined with validated analytical methods such as liquid chromatography-tandem mass spectrometry (LC-MS/MS), DBS samples can provide sensitive, specific and quantitative measurement of clinically relevant biomarkers.
Applicable across different age groups: DBS testing can be used from the neonatal period through adulthood. However, newborns and young infants require an age-appropriate heel-prick collection device and dedicated collection procedure. The standard Rare Diagnostics home collection kit contains a fingertip lancet and is not intended for heel-prick collection. Please contact our laboratory before ordering a test for a newborn or young infant.
WHO guidance similarly distinguishes heel-prick sampling in young infants from finger-prick sampling in older children and adults. Iris
The analytical technology: LC-MS/MS
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) is a well-established analytical technology used extensively in clinical and metabolic laboratories.
The technique first separates compounds present in a sample by liquid chromatography and then identifies and quantifies selected molecules using tandem mass spectrometry.
For rare disease diagnostics, this provides several important advantages:
- Sensitivity — LC-MS/MS can detect and quantify metabolites present at very low concentrations.
- Specificity — chromatographic separation combined with mass-selective detection helps distinguish target analytes from structurally related compounds and reduces analytical interference.
- Multiplexing — multiple analytes can be measured from a single DBS sample.
- Quantification — appropriately validated LC-MS/MS methods allow accurate quantitative measurement of selected biomarkers.
- Validation — analytical performance can be systematically assessed for parameters such as precision, accuracy, linearity, selectivity and stability.
Mass spectrometry is widely used in newborn screening. Flow-injection tandem mass spectrometry (FIA-MS/MS) remains common for primary screening of many metabolic disorders, while LC-MS/MS is increasingly used for selected primary screening applications and second-tier testing where additional chromatographic specificity is valuable. PubMed Central (PMC)
How to collect your DBS sample — step by step
Everything required for standard fingertip collection is included in your test kit. The process normally takes only a few minutes, followed by the required drying time.
Important: The standard Rare Diagnostics collection kit is designed for fingertip blood collection. If the sample is to be collected from a newborn or young infant, please contact our laboratory before ordering. Heel-prick collection requires an age-appropriate device and dedicated collection instructions.
Step 1 — Prepare:
Wash your hands thoroughly with warm water and soap. Warm hands can help improve blood flow. Dry your hands completely before proceeding.
Step 2 — Select your collection site:
Use the side of the fingertip, preferably the middle or ring finger. Follow the collection instructions supplied with your test kit.
Step 3 — Prick:
Using the enclosed single-use fingertip lancet, press firmly against the selected site until the lancet activates. Follow the instructions included with the kit regarding preparation of the blood drop.
Step 4 — Apply blood to the filter paper:
Allow a large, round drop of blood to form. Gently touch the blood drop to the centre of the designated area on the filter paper card. Do not press or smear the finger against the paper. Allow the blood to absorb naturally through the filter paper and repeat according to the instructions supplied with your test.
Step 5 — Allow to dry:
Place the filter paper card on a clean, dry, flat surface and allow it to dry completely at room temperature for the period specified in the collection instructions. Do not use a hairdryer, heater or other external heat source.
Important: Please register your sample before sending it to the laboratory.
Step 6 — Register your sample:
Before sending your sample, register it using our secure sample registration platform. Registration allows us to correctly link the sample with the person being tested and the ordered laboratory test. Follow the registration instructions included with your kit.
Step 7 — Pack and send:
Once your sample has been registered and the filter paper card is fully dry, place it in the protective packaging supplied with your kit and send it to our laboratory in Warsaw according to the shipping instructions included with your kit.
Having difficulty with collection? Contact us at info@rarediagnostics.eu — our team will be happy to assist.
Frequently Asked Questions
Is a DBS sample as reliable as a conventional blood sample? ▼
DBS can provide reliable quantitative laboratory results when the analytical method has been specifically developed and validated for dried blood spot samples.
However, DBS, whole blood, plasma and serum are different sample matrices. Results should therefore be interpreted using the reference ranges or clinical decision limits established for the specific method and sample type. Results should not automatically be assumed to be interchangeable with conventional venous blood measurements unless equivalence has been specifically demonstrated.
Can the sample be affected during postal transit? ▼
Properly collected and dried DBS samples are generally suitable for ambient-temperature transport. Stability depends on the individual analyte, storage time, temperature, humidity and packaging. Samples should therefore be dried and packaged exactly according to the collection instructions.
If a sample is unsuitable for analysis when it reaches our laboratory, we will contact you.
What if I make a mistake during collection? ▼
If your sample does not meet our quality criteria on arrival, our laboratory will contact you and, where appropriate, arrange for a replacement collection kit.
Can I collect samples for more than one person at the same time? ▼
Yes — but each person must use a separate, individually labelled collection card and collection kit. Samples must never be combined.
Can the test be used for a newborn or young infant? ▼
Yes. DBS is widely used for testing newborns and infants. However, collection from a newborn or young infant requires an appropriate heel-prick device and a dedicated collection procedure.
The standard Rare Diagnostics kit available through this store contains a fingertip lancet and is not intended for heel-prick collection.
Please contact our laboratory before ordering a test for a newborn or young infant so that we can advise you on the appropriate collection procedure.
DBS in newborn screening and rare disease care
Dried blood spot sampling has a long-established role in newborn screening and metabolic diagnostics. A number of European and international organisations contribute to the development of newborn screening, rare disease policy, specialist care and professional standards.
EURORDIS — Rare Diseases Europe:
A European alliance representing people living with rare diseases and advocating for improved access to diagnosis, screening, treatment and care. EURORDIS has also published recommendations relating to the future development of newborn screening in Europe. Eurordis Download
ISNS — International Society for Neonatal Screening:
An international professional organisation focused on newborn screening, exchange of scientific knowledge and improvement of screening programmes worldwide.
EUNENBS — European Union Network of Experts on Newborn Screening:
An EU-supported expert initiative established as part of earlier European work to survey newborn screening practices and develop expert opinions on newborn screening systems across Europe. It should not be understood as a current body coordinating national newborn screening programmes, which remain the responsibility of individual countries. MDPI
ERN — European Reference Networks:
European Reference Networks connect highly specialised healthcare centres across Europe to improve access to expertise for patients with rare, complex and low-prevalence diseases. ERNs are not newborn screening programmes, but they play an important role in specialist diagnosis, consultation and care for rare disease patients. Public Health
National newborn screening programmes:
Dried blood spot sampling is widely used in newborn screening programmes throughout Europe. The number of conditions screened, testing algorithms and organisational models differ between countries.
Scientific publications
The DBS-based methods used by Rare Diagnostics are developed and validated by the research and development team at Masdiag Sp. z o.o.
Our scientific work includes the development and validation of analytical methods using dried blood spots, LC-MS/MS and other technologies used in laboratory diagnostics. Selected results of our work have been published in peer-reviewed scientific journals and presented at scientific conferences.