75393-9
LaboratoryHTT gene CAG repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Definition
Prenatal diagnosis of Huntington disease (HD) by detecting the presence of a CAG expansion in the HTT gene in amniotic fluid or chorionic villus sample (CVS). This test may be performed when there is a family history of a CAG expansion.
LOINC 6-Axis Classification
Component
HTT gene.CAG 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
HTT gene CAG Rpt Amn/CVS Ql
Display Name
HTT gene CAG repeats Molgen Ql (Amnio fld/CVS)
Related Names
Frequently Asked Questions
What is LOINC code 75393-9?
LOINC code 75393-9 identifies "HTT gene CAG repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method". Prenatal diagnosis of Huntington disease (HD) by detecting the presence of a CAG expansion in the HTT gene in amniotic fluid or chorionic villus sample (CVS). This test may be performed when there is a family history of a CAG expansion.
What does 75393-9 measure?
This code measures HTT gene.CAG 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.