94188-0
LaboratoryAPC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the APC gene. In addition, deletion/duplication analysis, such as by array comparative genomic hybridization (aCGH), is used to test for the presence of large deletions or duplications in the APC gene. This test is used to confirm a diagnosis of familial adenomatous polyposis (FAP) for patients with clinical findings.
LOINC 6-Axis Classification
Component
APC gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
APC gene Del+Dup + Full Mut Anl Bld/T
Display Name
APC gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94188-0?
LOINC code 94188-0 identifies "APC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the APC gene. In addition, deletion/duplication analysis, such as by array comparative genomic hybridization (aCGH), is used to test for the presence of large deletions or duplications in the APC gene. This test is used to confirm a diagnosis of familial adenomatous polyposis (FAP) for patients with clinical findings.
What does 94188-0 measure?
This code measures APC gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH 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.