LOINC Code 75392-1: FXN gene GAA repeats Molgen Ql (Amnio fld/CVS)

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component FXN gene.GAA repeats. It is commonly used with the system or sample type Amnio fld/CVS.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Both
• Method: Molgen

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• FXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method
• FXN gene.GAA repeats
• 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.
• AF; Amn; Amn fl; Amn/CVS; Amnio; Amniotic flu; Amniotic fluid; Chorionic villi; Chorionic villus sample; CyaY; FA; FARR; frataxin; FRDA; Friedreich ataxia 1; Friedreich's Ataxia; FXN gene GAA Rpt; Genetics; Gyn; Gynecology; Heredity; Heritable; Human frataxin; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; OB; ObGyn; Obstetrics; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; Screen; X25

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Frequently asked questions