75392-1
LaboratoryFXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Definition
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.
LOINC 6-Axis Classification
Component
FXN gene.GAA repeats
Property
PrThr
Time Aspect
Pt
System
Amnio fld/CVS
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.NUCREPEAT
Order/Observation
Both
Short Name
FXN gene GAA Rpt Amn/CVS Ql
Display Name
FXN gene GAA repeats Molgen Ql (Amnio fld/CVS)
Related Names
Frequently Asked Questions
What is LOINC code 75392-1?
LOINC code 75392-1 identifies "FXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method". 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.
What does 75392-1 measure?
This code measures FXN gene.GAA repeats in Amnio fld/CVS. It belongs to the MOLPATH.NUCREPEAT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.