LOINC
Version 2.72

100019-9ALK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP265685-0   ALK gene
The ALK (ALK receptor tyrosine kinase) gene [HGNC Gene ID:427] is located on chromosome 2 at 2p23.2-p23.1. This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily, and has been found to be rearranged, mutated, or amplified in a series of tumors including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumorigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] [NCBI Gene ID:238] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
ALK gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
ALK gene Mut Anl Bld/T
Display Name
ALK gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
ALK gene variant analysis, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.72
Order vs. Observation
Both

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100019-9