USH1C gene full mutation analysis in Blood or Tissue by Sequencing   77127-9

LOINC Code


LOINC code77127-9
nameUSH1C gene full mutation analysis in Blood or Tissue by Sequencing
statusACTIVE

Fully-Specified Name

componentUSH1C 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 nameUSH1C Full Mut Anl Bld/T Seq

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

AIE-75
Blood
DFNB18
DFNB18A
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
harmonin
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
Next generation sequencing
NGS
Non-syndromic sensorineural deafness autosomal recessive type 18
NY-CO-37
NY-CO-38
PDZ-45
PDZ73
PDZ-73
PDZ-73/NY-CO-38
PDZD7C
Point in time
Random
sequencing of entire coding region
Tissue
Tissue, unspecified
ush1cpst
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome type 1C
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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