103844-7

LOINC code 103844-7 identifies "HBA1 and HBA2 gene deletion in Amniotic fluid or Chorionic villus sample by Molecular genetics method". 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.

This code measures HBA1 & HBA2 gene deletion in Amnio fld/CVS. It belongs to the MOLPATH.DELDUP class in the LOINC classification.

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.