94223-5
LaboratoryPTEN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Full gene sequencing and deletion/duplication analysis of the PTEN gene is performed identify a causative mutation or large deletion/duplication associated with various cancers (lung, prostate, head & neck) and PTEN hamartoma tumor syndrome, which includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, or Proteus-like syndrome.[GHR gene: PTEN]
LOINC 6-Axis Classification
Component
PTEN 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
PTEN gene Del+Dup + Full Mut Anl Bld/T
Display Name
PTEN gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94223-5?
LOINC code 94223-5 identifies "PTEN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Full gene sequencing and deletion/duplication analysis of the PTEN gene is performed identify a causative mutation or large deletion/duplication associated with various cancers (lung, prostate, head & neck) and PTEN hamartoma tumor syndrome, which includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, or Proteus-like syndrome.[GHR gene: PTEN]
What does 94223-5 measure?
This code measures PTEN 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.