USH1C gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method   77128-7

LOINC Code


LOINC code77128-7
nameUSH1C gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentUSH1C gene mutation analysis limited to known familial mutations
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 nameUSH1C Fam 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

AIE-75
Blood
DFNB18
DFNB18A
Document
Fam Mut Anl
Finding
Findings
Genetics
harmonin
Heredity
Heritable
Inherited
LMTED
LTD
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutation
Mutations
Muts
Non-syndromic sensorineural deafness autosomal recessive type 18
NY-CO-37
NY-CO-38
PCR
PDZ-45
PDZ73
PDZ-73
PDZ-73/NY-CO-38
PDZD7C
Point in time
Random
Tissue
Tissue, unspecified
ush1cpst
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome type 1C
WB
Whole blood
Whole blood or Tissue

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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