LOINC long common name : Whole mRNA transcriptome sequence analysis in Blood or Tissue by Sequencing;
LOINC short name : Whole mRNA Seq Analysis Bld/T Seq;
LOINC description : Whole mRNA transcriptome analysis by sequencing (RNA-Seq) is performed to determine
what effect, if any, variants of unknown significance (VUS) may have on gene expression
under specific circumstances or in a specific cell. Effect on the transcripts include
a splice site defect, an inclusion of a pseudo-exon, exclusion of a real exon or loss
of expression of the gene. Whole RNA transcriptome analysis is used in cancer diagnostics
as well as other conditions to assess the functional impact of a variant on gene expression.
While RNA-Seq studies looks at RNA transcribed from (mostly) exonic regions of DNA,
whole exome sequencing studies [LOINC: 86205-2] look directly at the DNA contained
in exonic regions of the genome. This term was created for, but not limited in use
to, the submitter's MNG Whole Transcriptome assay, which is used to assess all genes
in mRNA that are expressed in the specimen and identify changes that could be associated
with the patient's clinical presentation. It is recommended that RNA-Seq assays are
performed in the context of DNA sequencing results since some variants may not be
detected in RNA.;
Has component