77635-1LOINC 2.82
C9orf72 gene GGGGCC repeats [Entitic number] in Blood or Tissue by Molecular genetics method
C9orf72 GGGGCC Rpt EntNum Bld/T
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]
Component
- C9orf72 gene.GGGGCC repeats
Specimen / system
- Bld/Tiss
Class
- MOLPATH.NUCREPEAT
Property
- EntNum
Scale
- Qn
Method
- Molgen
Related names
- ALS; ALSFTD; Amyotrophic lateral sclerosis; Blood; C9orf72 GGGGCC; C9orf72 GGGGCC Rpt; chromosome 9 open reading frame 72; Entitic; Entitic number; Frontotemporal dementia; FTD; FTDALS; FTDALS1; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; PCR; Point in time; QNT; Quan; Quant; Quantitative; Random; Repeat; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- ALS
- ALSFTD
- Amyotrophic lateral sclerosis
- Blood
- C9orf72 gene.GGGGCC repeats
- C9orf72 GGGGCC
- C9orf72 GGGGCC Rpt
- chromosome 9 open reading frame 72
- Entitic
- Entitic number
- Frontotemporal dementia
- FTD
- FTDALS
- FTDALS1
- Genetics
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.NUCREPEAT
- PCR
- Point in time
- QNT
- Quan
- Quant
- Quantitative
- Random
- Repeat
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue