PMP22 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA   75384-8

LOINC Code


LOINC code75384-8
namePMP22 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
statusACTIVE

Fully-Specified Name

componentPMP22 gene deletion+duplication
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.)
methodMLPA

Additional Names

short namePMP22 gene Del+Dup Bld/T MLPA

Basic Attributes

classMOLPATH.DEL
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 updated2.66
last change typeMAJ  - change to name field other than Component;
change reasonBased on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Related Names

Amplification
Blood
Charcot-Marie Tooth disease
CMT
CMT1A
CMT1E
Dejerine-Sottas syndrome
Del
Del+Dup
Deletions
Document
Dp
DSS
Finding
Findings
GAS3
GAS-3
Growth arrest specific gene 3
Hereditary neuropathy with liability to pressure palsies
HMSNIA
HNPP
Molecular pathology
MOLPATH
MOLPATH.DELETIONS
peripheral myelin protein 22
PMP-22
Point in time
Random
Sp110
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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