SLC25A20 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF
SLC25A20 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:SequencingLOINC code
Preferred Label : SLC25A20 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;
LOINC status : ACTIVE;
LOINC display name : SLC25A20 gene full mutation analysis Sequencing Doc (Bld/Tiss);
LOINC long common name : SLC25A20 gene full mutation analysis in Blood or Tissue by Sequencing;
LOINC short name : SLC25A20 Full Mut Anl Bld/T Seq;
LOINC description : Full gene sequence analysis is performed to test for the presence of a mutation in
the coding regions and intron/exon boundaries of the SLC25A20 gene. Mutations in this
gene are responsible for Carnitine-acylcarnitine translocase (CACT) deficiency, a
rare autosomal recessive disorder of fatty acid oxidation.[GHR gene: SLC25A20];