87738-1
LaboratoryGALC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
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.
LOINC 6-Axis Classification
Component
GALC gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
GALC Del+Dup + Full Mut Anl Bld/T
Display Name
GALC gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 87738-1?
LOINC code 87738-1 identifies "GALC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". 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.
What does 87738-1 measure?
This code measures GALC gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.