Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method 90040-7
LOINC Code
| LOINC code | 90040-7 | ||
|---|---|---|---|
| name | Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method | ||
| description | This assay detects the dosage (deletion and duplication) of alpha globin genes, including HBZ, HBM, HBA2, HBA1, HBQ1, located on the short (p) arm of chromosome 16 at position 13.3. The assay can also be used to detect the presence of deletions in the upstream LCR/HS-40 regulatory region. Deletions of the HBA1 and/or HBA2 genes are the most common cause of alpha thalassemia and in rare cases, mutations in or near these genes can also cause the disease. [GHR condition: alpha-thalassemia] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Alpha globin gene cluster & HS-40 region deletion+duplication | ||
| property | Find = Finding | ||
| 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 | Doc = Document: A document that could be in many formats (XML, narrative, etc.) | ||
| 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 | Alpha globin genes + HS-40 Del+Dup Bld/T | ||
Basic Attributes | |||
| class | MOLPATH.DELDUP | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
Ask At Order Entry | |||
Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.
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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 | 2.66 | ||
| last change type | NAM - change to Analyte/Component | ||
| change reason | Corrected Component from "HBA1 & HBA2 gene deletion" to accurately represent assays defined as "HBA1 & HBA2 gene deletion" but that are actually detecting deletions and duplications within the alpha globin gene cluster (16p13.3), which includes HBA1 & HBA2 genes. These assays also commonly assess deletions in the HS-40 upstream regulator element. | ||
Related Names | |||
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