70245-6

LOINC 2.82

PAH gene.p.Arg408Trp [Presence] in Blood or Tissue by Molecular genetics method

PAH p.R408W Bld/T Ql

Component

  • PAH gene.p.Arg408Trp

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • 12q23.2; ARG408TRP; Blood; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; P prime; PAH p.R408W; PAH, ARG408TRP; PCR; PH; phenylalanine hydroxylase; Phenylalanine hydroxylase gene; PHENYLKETONURIA; PKU; PKU1; Point in time; PR; QL; Qual; Qualitative; Random; rs5030858; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • 12q23.2
  • ARG408TRP
  • Blood
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • P prime
  • PAH p.R408W
  • PAH, ARG408TRP
  • PCR
  • PH
  • phenylalanine hydroxylase
  • Phenylalanine hydroxylase gene
  • PHENYLKETONURIA
  • PKU
  • PKU1
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • rs5030858
  • Screen
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue