87738-1

LOINC 2.82

GALC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

GALC Del+Dup + Full Mut Anl Bld/T

Definition

  • This test includes full sequencing analysis of all the coding regions and intron/exon boundaries of the GALC gene as well as deletion/duplication analysis, particularly for a 30-kb deletion encompassing exon 11 through the end of the GALC gene. Testing is performed for the diagnosis of Krabbe disease or for carrier testing in individuals with a family history of Krabbe disease but no known mutations in the family.

Component

  • GALC gene deletion+duplication & full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Galactocerebrosidase; Galactosylceramidase; Krabbe disease; Krabbe Leukodystrophy; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Amplification
  • Blood
  • Del
  • Del+Dup
  • Del+Dup + Full Mut Anl
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Galactocerebrosidase
  • Galactosylceramidase
  • GALC gene deletion+duplication & full mutation analysis
  • Krabbe disease
  • Krabbe Leukodystrophy
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutations
  • PCR
  • Point in time
  • Random
  • sequencing of entire coding region
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue