94224-3LOINC 2.82
RET gene full mutation analysis in Blood or Tissue by Sequencing
RET gene Full Mut Anl Bld/T Seq
Definition
- Testing includes full sequencing of the RET gene, including all exons 1-20, to identify pathogenic or likely pathogenic mutations associated with various conditions, including multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome.[GHR gene:RET]
Component
- RET gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; CDHF12; CDHR16; C-RET; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HSCR1; HTS; Inherited; MEN2A; MEN2B; Molecular pathology; MOLPATH; MTC1; Multiple endocrine neoplasia type IIa; Multiple endocrine neoplasia type IIb; Mut; Mutations; Next generation sequencing; NGS; Point in time; PTC; Random; ret proto-oncogene; RET51; RET-ELE1; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- C-RET
- CDHF12
- CDHR16
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HSCR1
- HTS
- Inherited
- MEN2A
- MEN2B
- Molecular pathology
- MOLPATH
- MTC1
- Multiple endocrine neoplasia type IIa
- Multiple endocrine neoplasia type IIb
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- PTC
- Random
- ret proto-oncogene
- RET-ELE1
- RET51
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue