53854-6

LOINC 2.82

CPS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

CPS1 gene Mut Anl Bld/T

Component

  • CPS1 gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; CA21H; CAH1; Carbamoyl-phosphate synthetase 1; carbamoyl-phosphate synthetase 1, mitochondrial; Carbamoylphosphate Synthetase I; Carbamoyl-Phosphate Synthetase I; CPS1; CPSase I; CYP21; CYP21B; cytochrome P450, family 21, subfamily A, polypeptide 2; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; P450c21B; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • CA21H
  • CAH1
  • Carbamoyl-phosphate synthetase 1
  • carbamoyl-phosphate synthetase 1, mitochondrial
  • Carbamoyl-Phosphate Synthetase I
  • Carbamoylphosphate Synthetase I
  • CPS1
  • CPSase I
  • CYP21
  • CYP21B
  • cytochrome P450, family 21, subfamily A, polypeptide 2
  • Document
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • P450c21B
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue