SLC26A5 gene c.-53-2A>G [Presence] in Blood or Tissue by Molecular genetics method 71355-2
LOINC Code
| LOINC code | 71355-2 | ||
|---|---|---|---|
| name | SLC26A5 gene c.-53-2A>G [Presence] in Blood or Tissue by Molecular genetics method | ||
| description | The solute carrier family 26, member 5 (SLC26A5) gene encodes Prestin and contains 21 exons. A single nucleotide change in the second intron, known as IVS2-2A>G (NM_198999.1:c.-53-2A>G), is associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray testing for this mutation. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | SLC26A5 gene.c.-53-2A>G | ||
| 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 | SLC26A5 c.-53-2A>G Bld/T Ql | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| 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 | 2.56 | ||
| last change type | MIN - change to field other than name | ||
| change reason | The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. | ||
Related Names | |||
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