81815-3

LOINC 2.82

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

CTNS Mut Anl Bld/T

Component

  • CTNS gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; CTNS targeted mut anal; CTNS-LSB; Cystinoses; cystinosin, lysosomal cystine transporter; Cystinosis; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Lysosomal Storage Disease; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; PQLC4; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • CTNS targeted mut anal
  • CTNS-LSB
  • Cystinoses
  • cystinosin, lysosomal cystine transporter
  • Cystinosis
  • Document
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Lysosomal Storage Disease
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • PCR
  • Point in time
  • PQLC4
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue