SMN2 gene copy number in Blood or Tissue by Molecular genetics method 97654-8
LOINC Code
| LOINC code | 97654-8 | ||
|---|---|---|---|
| name | SMN2 gene copy number in Blood or Tissue by Molecular genetics method | ||
| description | The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease.[PMID: 21673580] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | SMN2 gene copy number | ||
| property | EntNum = Entitic Number | ||
| 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/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
| 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 | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
| short name | SMN2 copy num EntNum Bld/T | ||
Basic Attributes | |||
| class | MOLPATH | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
| example UCUM units | {#} 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 | # | ||
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 | 2.72 | ||
| 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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