75392-1

LOINC 2.82

FXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method

FXN gene GAA Rpt Amn/CVS Ql

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.

Component

  • FXN gene.GAA repeats

Specimen / system

  • Amnio fld/CVS

Class

  • MOLPATH.NUCREPEAT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • 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

Index terms

  • 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
  • FXN gene.GAA repeats
  • 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

3 further terms