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{component}   LP432695-7

Laboratory   LP29693-6

Lab terms not yet categorized   LP248770-2

GJB2 gene c.35delG targeted mutation analysis in Blood or Tissue by Molecular genetics method   82138-9

LOINC Code


LOINC code82138-9
nameGJB2 gene c.35delG targeted mutation analysis in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentGJB2 gene.c.35delG targeted 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 nameGJB2 c.35delG Mut Anl Bld/T

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Ask At Order Entry

Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.

81247-9Master HL7 genetic variant reporting panel

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 updated2.65
last change typeMIN  - change to field other than name

Related Names

Blood
c.35deG
Connexin 26
Cx26
Deafness, autosomal dominant 3
Deafness, autosomal recessive 1
Deafness, autosomal recessive 3
Deafness, digenic
DFNA3
DFNA3A
DFNB1
DFNB1A
Document
Finding
Findings
Gap junction beta-2 protein gene
gap junction protein, beta 2, 26kDa
Genetics
GJB2 c.35delG
Heredity
Heritable
 HID
Inherited
KID
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mut Anl
Mutations
NSRD1
PCR
Point in time
PPK
Random
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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