82537-2
LaboratoryRAF1 gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full sequencing analysis of all 17 coding exons and intron/exon boundaries of the RAF1 gene is performed to aid in the diagnosis of RAF1-associated Noonan syndrome, LEOPARD (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and deafness) syndrome, and clinically related disorders.[GHR gene: RAF1]
LOINC 6-Axis Classification
Component
RAF1 gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
RAF1 Full Mut Anl Bld/T Seq
Display Name
RAF1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 82537-2?
LOINC code 82537-2 identifies "RAF1 gene full mutation analysis in Blood or Tissue by Sequencing". Full sequencing analysis of all 17 coding exons and intron/exon boundaries of the RAF1 gene is performed to aid in the diagnosis of RAF1-associated Noonan syndrome, LEOPARD (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and deafness) syndrome, and clinically related disorders.[GHR gene: RAF1]
What does 82537-2 measure?
This code measures RAF1 gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT 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.