94193-0
LaboratoryCDKN1C gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the CDKN1C gene to confirm a clinical diagnosis of Beckwith-Wiedemann syndrome or IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) syndrome.[GHR gene: CDKN1C]
LOINC 6-Axis Classification
Component
CDKN1C gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
CDKN1C Full Mut Anl Bld/T Seq
Display Name
CDKN1C gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94193-0?
LOINC code 94193-0 identifies "CDKN1C gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the CDKN1C gene to confirm a clinical diagnosis of Beckwith-Wiedemann syndrome or IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) syndrome.[GHR gene: CDKN1C]
What does 94193-0 measure?
This code measures CDKN1C gene 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.