Acid alpha glucosidase [Enzymatic activity/volume] in DBS 55827-0
LOINC Code
| LOINC code | 55827-0 | ||
|---|---|---|---|
| name | Acid alpha glucosidase [Enzymatic activity/volume] in DBS | ||
| description | This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Acid alpha glucosidase | ||
| 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 | Acid A-Glucosidase 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 | |||
| |||
History/Usage | |||
| first released | |||
| last updated | 2.70 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
| |||
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.
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com