77099-0

LOINC 2.82

MRPL44 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

MRPL44 Fam Mut Anl Bld/T

Component

  • MRPL44 gene mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; Combined oxidative phosphorylation deficiency 16; COXPD16; Document; Fam Mut Anl; Finding; Findings; Genetics; Heredity; Heritable; Inherited; L44MT; LMTED; LTD; Mitochondrial ribosomal protein L44; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRP-L44; Mut; Mutation; Mutations; Muts; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Combined oxidative phosphorylation deficiency 16
  • COXPD16
  • Document
  • Fam Mut Anl
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • L44MT
  • LMTED
  • LTD
  • Mitochondrial ribosomal protein L44
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MRP-L44
  • Mut
  • Mutation
  • Mutations
  • Muts
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue