PDX1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal   94078-3

LOINC Code


LOINC code94078-3
namePDX1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
descriptionThis 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).
statusACTIVE

Fully-Specified Name

componentPDX1 gene full mutation analysis
propertyPrid  =  Presence or identity:  Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte.
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleNom  =  Nominal:  Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody.
methodSequencing

Additional Names

short namePDX1 Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.67
last change typeADD  - added

Related Names

Blood
full gene sequencing
Full Mut Anl
high-throughput sequencing
HTS
Identity or presence
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
Next generation sequencing
NGS
Nominal
Point in time
Random
sequencing of entire coding region
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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