77077-6

LOINC 2.82

MRPL40 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

MRPL40 Fam Mut Anl Bld/T

Component

  • MRPL40 gene mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; DiGeorge Syndrome; Document; Fam Mut Anl; Finding; Findings; Genetics; Heredity; Heritable; Inherited; LMTED; LTD; Mitochondrial ribosomal protein L40; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRPL22; MRP-L22; Mut; Mutation; Mutations; Muts; NLVCF; Nuclear localization signal deleted in velocardiofacial syndrome; PCR; Point in time; Random; Tissue; Tissue, unspecified; URIM; VCF; VCF syndrome; velo-cardio-facial syndrome; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • DiGeorge Syndrome
  • Document
  • Fam Mut Anl
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • LMTED
  • LTD
  • Mitochondrial ribosomal protein L40
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MRP-L22
  • MRPL22
  • Mut
  • Mutation
  • Mutations
  • Muts
  • NLVCF
  • Nuclear localization signal deleted in velocardiofacial syndrome
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • URIM
  • VCF
  • VCF syndrome
  • velo-cardio-facial syndrome
  • WB
  • Whole blood
  • Whole blood or Tissue