40434-3

LOINC 2.82

APTX gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

APTX gene Mut Anl Bld/T

Component

  • APTX gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • AOA; AOA1; aprataxin; Aprataxin gene; Ataxia 1, early onset with hypoalbuminemia; AXA1; Blood; Document; EAOH; EOAHA; FHA-HIT; Finding; Findings; FLJ20157; Genetics; Heredity; Heritable; HGNC:902; Inherited; MGC1072; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • AOA
  • AOA1
  • aprataxin
  • Aprataxin gene
  • Ataxia 1, early onset with hypoalbuminemia
  • AXA1
  • Blood
  • Document
  • EAOH
  • EOAHA
  • FHA-HIT
  • Finding
  • Findings
  • FLJ20157
  • Genetics
  • Heredity
  • Heritable
  • HGNC:902
  • Inherited
  • MGC1072
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue