77076-8

LOINC 2.82

MRPL40 gene full mutation analysis in Blood or Tissue by Sequencing

MRPL40 Full Mut Anl Bld/T Seq

Component

  • MRPL40 gene full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Sequencing

Related names

  • Blood; DiGeorge Syndrome; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; mitochondrial ribosomal protein L40; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRPL22; MRP-L22; Mut; Mutations; Next generation sequencing; NGS; NLVCF; Nuclear localization signal deleted in velocardiofacial syndrome; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; URIM; VCF; VCF syndrome; velo-cardio-facial syndrome; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • DiGeorge Syndrome
  • Document
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • Heredity
  • Heritable
  • high-throughput sequencing
  • HTS
  • Inherited
  • mitochondrial ribosomal protein L40
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MRP-L22
  • MRPL22
  • Mut
  • Mutations
  • Next generation sequencing
  • NGS
  • NLVCF
  • Nuclear localization signal deleted in velocardiofacial syndrome
  • Point in time
  • Random
  • sequencing of entire coding region
  • Tissue
  • Tissue, unspecified
  • URIM
  • VCF
  • VCF syndrome
  • velo-cardio-facial syndrome
  • WB
  • Whole blood
  • Whole blood or Tissue