The dry blood spot (DBS) kit is used to collect blood for diagnostic testing from patients with suspected Fabry disease. The DBS kit should be used following pedigree analysis and/or the identification of signs and symptoms that may be indicative of Fabry disease.
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
Disinfect the patient’s arm or finger
Preform venipuncture following EDTA procedures from the arm or, puncture the selected finger using a sterile lancet
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.
Blood can be taken either by venepuncture or by pricking a finger. Blood is then collected onto DBS cards and sent for testing. DBS samples from patients with suspected Fabry disease are then tested for α-galactosidase A activity. The GLA gene is also sequenced. DBS, dry blood spot.