79339-8

LOINC 2.82

Carnitine biosynthesis intermediates pattern newborn screen interpretation

Carnitine biosynthesis pattern DBS-Imp

Definition

  • The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.

Component

  • Carnitine biosynthesis intermediates pattern

Specimen / system

  • Bld.dot

Class

  • CHEM

Property

  • Imp

Scale

  • Nar

Related names

  • Blood; Carnitine biosynthesis pattern; Carnitine.total; Chemistry; DBS; Dried blood spot; Filter paper; FP; Impression; Impression/interpretation of study; Impressions; Interp; Interpretation; Narrative; Point in time; Random; Report; WB; Whole blood

Index terms

  • Blood
  • Carnitine biosynthesis pattern
  • Carnitine.total
  • Chemistry
  • DBS
  • Dried blood spot
  • Filter paper
  • FP
  • Impression
  • Impression/interpretation of study
  • Impressions
  • Interp
  • Interpretation
  • Narrative
  • Point in time
  • Random
  • Report
  • WB
  • Whole blood