94078-3LOINC 2.82
PDX1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
PDX1 Full Mut Anl Bld/T Seq
Definition
- This test detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the PDX1 (previously called IPF1) gene for the diagnosis of Maturity-Onset Diabetes of Young (MODY).
Component
- PDX1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Sequencing
Related names
- Blood; full gene sequencing; Full Mut Anl; high-throughput sequencing; HTS; Identity or presence; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Nominal; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- full gene sequencing
- Full Mut Anl
- high-throughput sequencing
- HTS
- Identity or presence
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- Nominal
- PDX1 gene full mutation analysis
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue