LOINC Code 55908-8: Alpha galactosidase A (DBS) [Catalytic activity/Vol]

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component Alpha galactosidase A. It is commonly used with the system or sample type Bld.dot.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Both

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• Alpha galactosidase A [Enzymatic activity/volume] in DBS
• Alpha galactosidase A
• This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
• A-Galactosidase A; Alfa; Alpha galactosidase; Alpha-D-galactosidase; Blood; Catalytic Concentration; Chemistry; DBS; Dried blood spot; Filter paper; FP; GM1-gangliosidosis; Morquio disease type B; MPS IV B; Point in time; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Related SNOMED CT concepts

Related observations and tests

Common synonyms

Frequently asked questions