AutoICD API

94079-1

Laboratory

TYMP gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

Definition

Detection of mutations in the TYMP gene for the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

LOINC 6-Axis Classification

Component

TYMP gene full mutation analysis

Property

Prid

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Nom

Method Type

Sequencing

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

TYMP Full Mut Anl Bld/T Seq

Display Name

TYMP gene full mutation analysis Sequencing Nom (Bld/Tiss)

Related Names

BloodECGF1Endothelial cell growth factor 1 (platelet-derived)full gene sequencingFull Mut Anlhigh-throughput sequencingHTSIdentity or presenceMolecular pathologyMOLPATHMOLPATH.MUTATIONSMutMutationsNext generation sequencingNGSNominalPoint in timeRandomsequencing of entire coding regionThymidine phosphorylaseTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94079-1?

LOINC code 94079-1 identifies "TYMP gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal". Detection of mutations in the TYMP gene for the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

What does 94079-1 measure?

This code measures TYMP gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.