PDHA1 gene full mutation analysis in Blood or Tissue by Sequencing   75403-6

LOINC Code


LOINC code75403-6
namePDHA1 gene full mutation analysis in Blood or Tissue by Sequencing
statusACTIVE

Fully-Specified Name

componentPDHA1 gene full mutation analysis
propertyFind  =  Finding
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
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodSequencing

Additional Names

short namePDHA1 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 updated2.66
last change typeMAJ  - change to name field other than Component;
change reasonBased on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Related Names

Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
Next generation sequencing
NGS
PDHA
PDHAD
PDHCE1A
PHE1A
Point in time
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase E1-alpha deficiency
Random
sequencing of entire coding region
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue
X-linked Leigh syndrome

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, 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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