DBS Kits

The dry blood spot (DBS) kit offers a method to collect blood in order to undertake a diagnostic test in patients that are suspected of suffering from Gaucher disease. It is important that the clinical diagnosis is confirmed by a combination of genetic and other biomarker testing specific to the disease, and helps to ensure that patients receive timely specialist support and treatment.

The DBS kit should be used following the initial identification of symptoms that may be suggestive of Gaucher disease.

DBS Kit Contents


One DBS  test request form attached to a filter card for collection of blood spots


The patient informed consent form


One pre-addressed ‘return to lab’ envelope

Blood can be taken either by venipucture or by pricking a finger


Disinfect the patient’s arm or finger


Preform venipuncture following EDTA procedures from the arm or, puncture the selected finger using a sterile lancet

Blood is collected onto DBS cards, processed and sent for testing


Pipette 50 μl of required sample or approximately 3 drops from the finger onto the circle without touching the surface of the filter card. The entire circle should be uniformly saturated. When correctly applied, the blood spot will be visible on the back of the card.


Continue procedure until the 10 required blood spots are completely saturated. The card should then be air dried for at least 3 hours. It is recommended that completed filter cards are sent within 1-2 weeks.

DBS samples from Gaucher disease patients are tested for β-glucocerebrosidase (GBA) activity followed by GBA gene sequencing

DBS Kit Queries

For queries relating to the DBS kit, please contact the Shire Global Medical Affairs team. To request DBS kits, please contact your local Shire representative. For queries relating to test results, please contact Centogene AG ensuring you provide your patient’s demographic information.

Shire Global Medical Affairs and Quality:

Enquiries about Tests/Results:

+49 381 2036520

Laboratory testing and analysis:

Centogene AG
Schillingallee 68
18057 Rostock

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