HBA2 gene c.427T>C [Presence] in Blood by Molecular genetics method 55237-2
LOINC Code
| LOINC code | 55237-2 | ||
|---|---|---|---|
| name | HBA2 gene c.427T>C [Presence] in Blood by Molecular genetics method | ||
| description | This assay detects the hemoglobin Constant Spring (CS) mutation located in the HBA2 gene on chromosome 16 at position p13.3.[NCBI ClinVar ID: 15624] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | HBA2 gene.c.427T>C | ||
| property | PrThr = Present or threshold: The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold. | ||
| 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 = Whole blood | ||
| scale | Ord = Ordinal: Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive. | ||
| 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 | HBA2 c.427T>C Bld Ql | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| type | 1 Laboratory | ||
| order vs. observation | Observation | ||
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 | 2.66 | ||
| last change type | NAM - change to Analyte/Component | ||
| change reason | Updated Component name from "HBA2 CS gene" to align with the HGVS recommendations for naming a variant. Also updated the Property from "Arb" to "PrThr" based on the current LOINC model. | ||
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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