49014-4

LOINC 2.82

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

PAH gene Mut Anl Bld/T

Component

  • PAH gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • 12q23.2; Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; PH; phenylalanine hydroxylase; Phenylalanine hydroxylase gene; PHENYLKETONURIA; PKU; PKU1; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • 12q23.2
  • Blood
  • Document
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • PCR
  • PH
  • phenylalanine hydroxylase
  • Phenylalanine hydroxylase gene
  • PHENYLKETONURIA
  • PKU
  • PKU1
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue