C9orf72 gene GGGGCC repeats [Entitic number] in Blood or Tissue by Molecular genetics method 77635-1
LOINC Code
| LOINC code | 77635-1 | ||
|---|---|---|---|
| name | C9orf72 gene GGGGCC repeats [Entitic number] in Blood or Tissue by Molecular genetics method | ||
| 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] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | C9orf72 gene.GGGGCC repeats | ||
| property | EntNum = Entitic Number | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
| scale | Qn = Quantitative: The result of the test is a numeric value that relates to a continuous numeric scale. Reported either as an integer, a ratio, a real number, or a range. The test result value may optionally contain a relational operator from the set {<=, <, >, >=}. Valid values for a quantitative test are of the form "7", "-7", "7.4", "-7.4", "7.8912", "0.125", "<10", "<10.15", ">12000", 1-10, 1:256 | ||
| method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
| short name | C9orf72 GGGGCC Rpt EntNum Bld/T | ||
Basic Attributes | |||
| class | MOLPATH.NUCREPEAT | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
| example UCUM units | {GGGGCC_repeats} The Unified Code for Units of Measure (UCUM) is a code system intended to include all units of measures being contemporarily used in international science, engineering, and business (www.unitsofmeasure.org) | ||
| example unit | GGGGCC repeats | ||
Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
History/Usage | |||
| first released | |||
| last updated | 2.52 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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