Rekord LOINC: 94820-8

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.

Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Next generation sequencing; NGS; Point in time; Random; RNA transcriptome profiling; RNA-Seq; Tissue; Tissue, unspecified; transcriptional profiling; WB; Whole blood; Whole blood or Tissue; Whole mRNA Seq Analysis