RPGRIP1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method   77118-8

LOINC Code


LOINC code77118-8
nameRPGRIP1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentRPGRIP1 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 nameRPGRIP1 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

Blood
Congenital blindness
CORD13
Document
Fam Mut Anl
Finding
Findings
Genetics
Heredity
Heritable
Inherited
LCA6
LMTED
LTD
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutation
Mutations
Muts
PCR
Point in time
Random
Retinitis pigmentosa
retinitis pigmentosa GTPase regulator interacting protein 1
RGI1
RGRIP
RPGRIP
RPGRIP1d
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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