74780-8

LOINC 2.82

CPT1A gene c.1436C>T [Presence] in DBS by Molecular genetics method

CPT1A c.1436C>T DBS Ql

Definition

  • DNA analysis performed using an allelic discrimination assay for the P479L(c.1436C>T) sequence variant in the Carnitine Palmitoyl Transferase (CPT1a) gene.

Component

  • CPT1A gene.c.1436C>T

Specimen / system

  • Bld.dot

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; carnitine palmitoyltransferase 1A (liver); CPT1; CPT1A c.1436C>T; CPT1-L; DBS; Dried blood spot; Filter paper; FP; Genetics; Heredity; Heritable; Inherited; L-CPT1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; T prime; WB; Whole blood

Index terms

  • Blood
  • carnitine palmitoyltransferase 1A (liver)
  • CPT1
  • CPT1-L
  • CPT1A c.1436C&gt
  • CPT1A gene.c.1436C>T
  • DBS
  • Dried blood spot
  • Filter paper
  • FP
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • L-CPT1
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • T
  • T prime
  • WB
  • Whole blood