90040-7
LaboratoryAlpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
Definition
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]
LOINC 6-Axis Classification
Component
Alpha globin gene cluster & HS-40 region deletion+duplication
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.DELDUP
Order/Observation
Both
Short Name
Alpha globin genes + HS-40 Del+Dup Bld/T
Display Name
Alpha globin gene cluster and HS-40 region del and dup mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 90040-7?
LOINC code 90040-7 identifies "Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method". 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]
What does 90040-7 measure?
This code measures Alpha globin gene cluster & HS-40 region deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.DELDUP class in the LOINC classification.
What is LOINC?
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.