Alpha galactosidase A [Enzymatic activity/volume] in DBS 55908-8
LOINC Code
| LOINC code | 55908-8 | ||
|---|---|---|---|
| name | Alpha galactosidase A [Enzymatic activity/volume] in DBS | ||
| description | 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. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Alpha galactosidase A | ||
| property | CCnc = Catalytic Concentration | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Bld.dot = Blood filter paper | ||
| scale | Qn = Quantitative: The result of the test is a numeric value that relates to a continuous numeric scale. Reported either as an integer, a ratio, a real number, or a range. The test result value may optionally contain a relational operator from the set {<=, <, >, >=}. Valid values for a quantitative test are of the form "7", "-7", "7.4", "-7.4", "7.8912", "0.125", "<10", "<10.15", ">12000", 1-10, 1:256 | ||
| method | |||
Additional Names | |||
| short name | A-Galactosidase A DBS-cCnc | ||
Basic Attributes | |||
| class | CHEM | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
| example UCUM units | umol/L/h The Unified Code for Units of Measure (UCUM) is a code system intended to include all units of measures being contemporarily used in international science, engineering, and business (www.unitsofmeasure.org) | ||
| example unit | umol/L/h | ||
Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
Member of these Panels | |||
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History/Usage | |||
| first released | |||
| last updated | 2.70 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.
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