CLN3 gene exon 7+8 deletion [Presence] in Blood or Tissue by Molecular genetics method   70243-1

LOINC Code


LOINC code70243-1
nameCLN3 gene exon 7+8 deletion [Presence] in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentCLN3 gene exon 7+8 deletion
propertyPrThr  =  Present or threshold:  The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold.
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
scaleOrd  =  Ordinal:  Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive.
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 nameCLN3 exon 7+8 Del Bld/T Ql

Basic Attributes

classMOLPATH.MUT
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

test rank18849 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
last change typeMIN  - change to field other than name
change reasonProperty has been changed from Arb (arbitrary) to Pr (presence) to reflect our current model for Ordinal terms where the results are based on the presence or absence of a mutation or variant. Scale has been changed from Nom to Ord since results (e.g. present/absent or wildtype, heterozgous, homozygous) are ordinal.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.

Related Names

1.02 kb deletion
1.02-KB DEL
1.02kB deletion
1kb deletion
Batten disease
Blood
BTS
c.461-280_677+382del
CLN3 exon 7+8
CLN3, 1.02-KB DEL
Del
Deletions
Genetics
Heredity
Heritable
Inherited
JNCL
juvenile-onset neuronal ceroid lipo-fuscinosis
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Ordinal
PCR
Point in time
PR
QL
Qual
Qualitative
Random
Screen
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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