94193-0LOINC 2.82
CDKN1C gene full mutation analysis in Blood or Tissue by Sequencing
CDKN1C Full Mut Anl Bld/T Seq
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]
Component
- CDKN1C gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; BWCR; BWS; cyclin dependent kinase inhibitor 1C; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; KIP2; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; p57; p57Kip2; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; WBS; Whole blood; Whole blood or Tissue
Index terms
- Blood
- BWCR
- BWS
- cyclin dependent kinase inhibitor 1C
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- KIP2
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- Next generation sequencing
- NGS
- p57
- p57Kip2
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- WBS
- Whole blood
- Whole blood or Tissue