NOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics method 93795-3
LOINC Code
| LOINC code | 93795-3 | ||
|---|---|---|---|
| name | NOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics method | ||
| description | The detection of an intronic GGCCTG hexanucleotide repeat from 3-8 copies to 1500-2500 copies in the NOP56 gene that causes SCA36, a rare type of spinocerebellar ataxia that presents with motor neuron dysfunction.[PMID: 21683323] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | NOP56 gene.GGCCTG repeats | ||
| property | PrThr = Present or threshold: The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold. | ||
| 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 | Ord = Ordinal: Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive. | ||
| 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 | NOP56 GGCCTG Rpt Bld/T Ql | ||
Basic Attributes | |||
| class | MOLPATH.NUCREPEAT | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
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 | 2.67 | ||
| last change type | ADD - added | ||
Related Names | |||
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