94201-1

LOINC 2.82

GNPTAB gene full mutation analysis in Blood or Tissue by Sequencing

GNPTAB Full Mut Anl Bld/T Seq

Definition

  • Full gene sequence analysis of the coding region of the GNPTAB gene is performed for molecular diagnosis or carrier status of mucolipidosis II alpha/beta and mucolipidosis III alpha/beta.[GHR gene: GNPTAB]

Component

  • GNPTAB gene full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Sequencing

Related names

  • Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GNPTA; Heredity; Heritable; high-throughput sequencing; HTS; ICD; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; N-acetylglucosamine-1-phosphate transferase subunits alpha and beta; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Document
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • GNPTA
  • Heredity
  • Heritable
  • high-throughput sequencing
  • HTS
  • ICD
  • Inherited
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutations
  • N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • Next generation sequencing
  • NGS
  • Point in time
  • Random
  • sequencing of entire coding region
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue