Diagnostic Kits

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.

DBS Kit Contents

Fabry disease diagnostic kits image - One DBS test request form attached to a filter card for collection of blood spots

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

Fabry disease diagnostic kits image - The patient informed consent form

The patient informed consent form

Fabry disease diagnostic kits image - One pre-addressed ‘return to lab’ envelope

One pre-addressed ‘return to lab’ envelope

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

Fabry disease diagnostic kits image - Disinfecting the patient’s arm or finger

Disinfect the patient’s arm or finger

Fabry disease diagnostic kits image - Performing venipuncture

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

Fabry disease diagnostic kits image - Blood is collected onto DBS cards, processed and sent for testing - pipette stage

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.

Fabry disease diagnostic kits image - One DBS test request form attached to a filter card for collection of blood spots

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.

More information about diagnostic kits

 Recent posts from Rare2Aware on Fabry Disease

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