94080-9LOINC 2.82
RRM2B gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
RRM2B Full Mut Anl Bld/T Seq
Definition
- Detection of mutations in the RRM2B gene for the diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) and mitochondrial encephalomyopathy.
Component
- RRM2B 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; Mitochondrial Encephalomyopathy; Mitochondrial neurogastrointestinal encephalopathy; MNGIE syndrome; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Nominal; p53R2; Point in time; Random; ribonucleotide reductase M2 B (TP53 inducible); ribonucleotide reductase regulatory TP53 inducible subunit
M2B; 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
- Mitochondrial Encephalomyopathy
- Mitochondrial neurogastrointestinal encephalopathy
- MNGIE syndrome
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- Nominal
- p53R2
- Point in time
- Random
- ribonucleotide reductase M2 B (TP53 inducible)
- ribonucleotide reductase regulatory TP53 inducible subunit M2B
- RRM2B gene full mutation analysis
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue