90040-7

LOINC 2.82

Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method

Alpha globin genes + HS-40 Del+Dup Bld/T

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]

Component

  • Alpha globin gene cluster & HS-40 region deletion+duplication

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.DELDUP

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • 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; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Alfa
  • Alpha globin gene cluster & HS-40 region deletion+duplication
  • 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
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue