79284-6

LOINC 2.82

Carnitine biosynthesis intermediates panel - DBS

Carnitine biosynthesis Panel DBS

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 panel

Specimen / system

  • Bld.dot

Class

  • PANEL.CHEM

Property

  • -

Scale

  • -

Related names

  • Blood; Carnitine biosynthesis Panel; Carnitine.total; Chemistry; DBS; Dried blood spot; Filter paper; FP; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; Random; WB; Whole blood

Index terms

  • Blood
  • Carnitine biosynthesis Panel
  • Carnitine.total
  • Chemistry
  • DBS
  • Dried blood spot
  • Filter paper
  • FP
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pnl
  • Point in time
  • Random
  • WB
  • Whole blood