77635-1
LaboratoryC9orf72 gene GGGGCC repeats [Entitic number] in Blood or Tissue by Molecular genetics method
Definition
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]
LOINC 6-Axis Classification
Component
C9orf72 gene.GGGGCC repeats
Property
EntNum
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Qn
Method Type
Molgen
Details
Class
MOLPATH.NUCREPEAT
Order/Observation
Both
Short Name
C9orf72 GGGGCC Rpt EntNum Bld/T
Display Name
C9orf72 gene GGGGCC repeats Molgen (Bld/Tiss) [Entitic number]
Related Names
Frequently Asked Questions
What is LOINC code 77635-1?
LOINC code 77635-1 identifies "C9orf72 gene GGGGCC repeats [Entitic number] in Blood or Tissue by Molecular genetics method". 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]
What does 77635-1 measure?
This code measures C9orf72 gene.GGGGCC repeats in Bld/Tiss. It belongs to the MOLPATH.NUCREPEAT 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.