LOINC long common name : C9orf72 gene GGGGCC repeats [Entitic number] in Blood or Tissue by Molecular genetics
method;
LOINC short name : C9orf72 GGGGCC Rpt EntNum Bld/T;
LOINC description : Used to report the number of hexanucleotide GGGGCC repeats in a non-coding sequence
of the C9orf72 gene. This mutation is associated with 9p-linked ALS (amyotrophic lateral
sclerosis) and FTD (frontotemporal dementia).[PMID: 21944778] The normal number of
the hexanucleotide repeats is typically 30,[PMID: 22808918] but in patients with the
mutation, the repeat can occur in the order of hundreds.[PMID: 22399793];
Has component