Basic Properties

OID
1.3.6.1.4.1.12009.10.1.1638
Name
APOB gene R3500Q and R3500W
Description
Example results for targeted APOB gene mutation analysis of R3500Q and R3500W variants.
LOINCs using this list
1

Answer List

AnswerCodeScoreAnswer ID
One copy of the p.R3500Q mutation was detected.LA19922-6
One copy of the p.R3500W mutation was detected.LA19924-2
One copy each of the p.R3500Q and p.R3500W mutation was detected.LA19925-9
Two copies of the p.R3500Q mutation were detected.LA19926-7
Two copies of the p.R3500W mutation were detected.LA19927-5
A mutation was NOT detectedLA19943-2

LOINC terms using this Answer List

73748-6APOB gene p.Arg3500Gln and p.Arg3500Trp [Identifier] in Blood or Tissue by Molecular genetics method Nominal

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LL2474-6
ValueSet definition
https://fhir.loinc.org/ValueSet/?url=http://loinc.org/vs/LL2474-6
ValueSet expansion
https://fhir.loinc.org/ValueSet/$expand?url=http://loinc.org/vs/LL2474-6