55827-0
LOINC Code
| LOINC code | 55827-0 | ||
|---|---|---|---|
| name | |||
| 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 | Acd; Acid A-Glucosidase; Acid maltase; Acids; Alfa; Alpha galactosidase; Alpha-1,4-glucosidase; Blood; Catalytic Concentration; Chemistry; DBS; Dried blood spot; Filter paper; FP; GAA; Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; Point | ||
Basic Attributes | |||
| class | CHEM | ||
| type | 1 Laboratory | ||
| order vs. observation | Acid A-Glucosid | ||
| 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) | ||
Member of these Panels | |||
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History/Usage | |||
| first released | |||
| last updated | 2.7 | ||
| last change type | MIN - change to field other than name | ||
| change reason | umol/L/h | ||
Related Names | |||
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