55908-8
LaboratoryAlpha galactosidase A [Enzymatic activity/volume] in DBS
Definition
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.
LOINC 6-Axis Classification
Component
Alpha galactosidase A
Property
CCnc
Time Aspect
Pt
System
Bld.dot
Scale Type
Qn
Method Type
N/A
Details
Class
CHEM
Order/Observation
Both
Short Name
A-Galactosidase A DBS-cCnc
Display Name
Alpha galactosidase A (DBS) [Catalytic activity/Vol]
Related Names
Frequently Asked Questions
What is LOINC code 55908-8?
LOINC code 55908-8 identifies "Alpha galactosidase A [Enzymatic activity/volume] in DBS". 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.
What does 55908-8 measure?
This code measures Alpha galactosidase A in Bld.dot. It belongs to the CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.