HBA1 and HBA2 gene deletion in Amniotic fluid or Chorionic villus sample by Molecular genetics method 103844-7
LOINC Code
| LOINC code | 103844-7 | ||
|---|---|---|---|
| name | HBA1 and HBA2 gene deletion in Amniotic fluid or Chorionic villus sample by Molecular genetics method | ||
| description | Alpha-globin is an essential component of the hemoglobin tetramer, starting from the early stages of embryonic development. Deletion mutations involving one or both of the two alpha-globin genes (alpha1 and alpha2, located on chromosome 16p13) lead to reduced production of alpha-globin chains, and are the major cause of alpha-thalassemia. Severity of the disease is dependent on the total copy number of functional alpha-globin genes remaining. This assay detects the seven most common deletions (-alpha3.7, -alpha4.2, -alpha20.5, --SEA, --MED, -FIL, and --THAI) found in patients with alpha-thalassemia. This assay is performed by allele-specific PCR amplification of deletion mutation fragments, followed by agarose gel electrophoresis of the amplification products. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | HBA1 & HBA2 gene deletion | ||
| 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 | Amnio fld/CVS Amnio fld = Amniotic fluid | ||
| 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 | HBA1 + HBA2 Del Amn/CVS | ||
Basic Attributes | |||
| class | MOLPATH.DELDUP | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
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 | 2.77 | ||
| last change type | ADD - added | ||
Related Names | |||
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