90040-7
LOINC Code
| LOINC code | 90040-7 | |
|---|---|---|
| name | ||
| 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 | Alfa; Alpha globin genes + HS-40; Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; HBA1 & HBA2 deletion; Heredity; Heritable; Inherited; LCR region; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.DELDUP; | |
Basic Attributes | ||
| class | MOLPATH.DELDUP | |
| type | 1 Laboratory | |
| order vs. observation | Alpha globin ge | |
History/Usage | ||
| first released | ||
| last updated | 2.66 | |
| last change type | NAM - change to Analyte/Component | |
Related Names | ||
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