55237-2

LOINC 2.82

HBA2 gene c.427T>C [Presence] in Blood by Molecular genetics method

HBA2 c.427T>C Bld Ql

Definition

  • This assay detects the hemoglobin Constant Spring (CS) mutation located in the HBA2 gene on chromosome 16 at position p13.3.[NCBI ClinVar ID: 15624]

Component

  • HBA2 gene.c.427T>C

Specimen / system

  • Bld

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • alpha-2 globin; Blood; Genetics; HB Constant Spring; HBA2 c.427T>C; HBA-T2; HBH; Hemoglobin, alpha 2; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; WB; Whole blood

Index terms

  • alpha-2 globin
  • Blood
  • C
  • Genetics
  • HB Constant Spring
  • HBA-T2
  • HBA2 c.427T&gt
  • HBA2 gene.c.427T>C
  • HBH
  • Hemoglobin, alpha 2
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • WB
  • Whole blood