PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method   94212-8

LOINC Code


LOINC code94212-8
namePKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
descriptionTest includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity. Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency.
statusACTIVE

Fully-Specified Name

componentPKLR gene deletion+duplication & 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.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short namePKLR gene Del+Dup + Full Mut Anl Bld/T

Basic Attributes

classMOLPATH
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 updated2.68
last change typeADD  - added

Related Names

Amplification
Blood
Del
Del+Dup
Del+Dup + Full Mut Anl
Deletions
Document
Dp
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
Mut
Mutations
PCR
PK1
PKL
PKR
PKRL
Point in time
Pyruvate kinase 1 gene
Pyruvate kinase isozymes R/L gene
pyruvate kinase, liver and RBC
Pyruvate kinase, liver and RBC gene
Random
Red cell/liver pyruvate kinase gene
RPK
R-type/L-type pyruvate kinase gene
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.

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.