GRHPR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method   94202-9

LOINC Code


LOINC code94202-9
nameGRHPR 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 (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the GRHPR gene. Testing is used to confirm a diagnosis of primary hyperoxaluria type 2 (PH2) and for carrier testing for individuals with a family history of PH2 in the absence of known mutations in the family.
statusACTIVE

Fully-Specified Name

componentGRHPR 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 nameGRHPR 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
GLXR
GLYD
glyoxylate reductase/hydroxypyruvate reductase
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
Mut
Mutations
PCR
PH2
Point in time
Random
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.

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