94216-9
LaboratorySTK11 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the STK11 gene to confirm a diagnosis of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms.[GHR gene: STK11]
LOINC 6-Axis Classification
Component
STK11 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
STK11 gene Del+Dup + Full Mut Anl Bld/T
Display Name
STK11 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94216-9?
LOINC code 94216-9 identifies "STK11 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the STK11 gene to confirm a diagnosis of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms.[GHR gene: STK11]
What does 94216-9 measure?
This code measures STK11 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.