LOINC display name : GALC gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : GALC gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : GALC Del Dup Full Mut Anl Bld/T;
LOINC description : 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.;
Has component