LOINC Home

{component}   LP432695-7

Laboratory   LP29693-6

Lab terms not yet categorized   LP248770-2

PTEN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method   94223-5

LOINC Code


LOINC code94223-5
namePTEN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
descriptionFull gene sequencing and deletion/duplication analysis of the PTEN gene is performed identify a causative mutation or large deletion/duplication associated with various cancers (lung, prostate, head & neck) and PTEN hamartoma tumor syndrome, which includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, or Proteus-like syndrome.[GHR gene: PTEN]
statusACTIVE

Fully-Specified Name

componentPTEN 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 namePTEN gene 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

10q23del
Amplification
Bannayan-Zonana syndrome
Blood
BZS
CWS1
DEC
Del
Del+Dup
Del+Dup + Full Mut Anl
Deletions
Document
Dp
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
GLM2
Heredity
Heritable
Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds
 Inherited
MGC11227
MHAM
MMAC1
Molecular genetics
Molecular pathology
MOLPATH
Mut
Mutated in multiple advanced cancers 1
Mutations
PCR
Phosphatase and tensin homolog
Point in time
PTEN1
Random
sequencing of entire coding region
TEP1
Tissue
Tissue, unspecified
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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