AutoICD API

94078-3

Laboratory

PDX1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

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).

LOINC 6-Axis Classification

Component

PDX1 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

PDX1 Full Mut Anl Bld/T Seq

Display Name

PDX1 gene full mutation analysis Sequencing Nom (Bld/Tiss)

Related Names

Bloodfull gene sequencingFull Mut Anlhigh-throughput sequencingHTSIdentity or presenceMolecular pathologyMOLPATHMOLPATH.MUTATIONSMutMutationsNext generation sequencingNGSNominalPoint in timeRandomsequencing of entire coding regionTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94078-3?

LOINC code 94078-3 identifies "PDX1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal". 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).

What does 94078-3 measure?

This code measures PDX1 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.