FXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method 75392-1
LOINC Code
| LOINC code | 75392-1 | ||
|---|---|---|---|
| name | FXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method | ||
| description | Prenatal diagnosis of Friedreich's Ataxia (FRDA) by detecting the presence of a GAA expansion in the FXN gene in amniotic fluid or chorionic villus sample (CVS). This test may be performed when there is a family history of a GAA expansion, primarily if both parents are known carriers. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | FXN gene.GAA 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 | Amnio fld/CVS Amnio fld = Amniotic fluid | ||
| 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 | FXN gene GAA Rpt Amn/CVS 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 | 2.64 | ||
| 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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