Creatine transport protein [Enzymatic activity/mass] in Fibroblast by Creatine uptake assay 79411-5
LOINC Code
LOINC code | 79411-5 | ||
---|---|---|---|
name | Creatine transport protein [Enzymatic activity/mass] in Fibroblast by Creatine uptake assay | ||
description | Creatine uptake via the creatine transport protein is determined by measuring the incorporation of creatine into fibroblasts. Decreased levels are associated with mutations in the SLC6A8 gene, which encodes the creatine transporter protein. The defect is clinically manifest in muscles cells, leading to muscle weakness. Creatine uptake is effected in many cell types, including fibroblasts, which are easy to collect. Therefore fibroblasts can be used as indicators cells for the creatine uptake defect. | ||
status | ACTIVE | ||
Fully-Specified Name | |||
component | Creatine transport protein | ||
property | CCnt = Catalytic Content | ||
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 | Fibroblasts | ||
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 | Creatine uptake | ||
Additional Names | |||
short name | CrT protein Fib Creat uptake-cCnt | ||
Basic Attributes | |||
class | CHEM | ||
type | 1 Laboratory | ||
order vs. observation | Both | ||
example UCUM units | pmol/(24.h)/mg{protein} 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 | pmol/24 H/mg protein | ||
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. | |||
History/Usage | |||
first released | |||
last updated | 2.54 | ||
last change type | ADD - added | ||
Related Names | |||
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