PCDH15 gene c.733C>T [Presence] in Blood or Tissue by Molecular genetics method   77748-2

LOINC Code


LOINC code77748-2
namePCDH15 gene c.733C>T [Presence] in Blood or Tissue by Molecular genetics method
descriptionThe presence of the PCDH15 gene mutation c.733C>T (NM_033056.3) is associated with Usher syndrome type 1F. Among Ashkenazi Jewish individuals, the carrier frequency is 1/147 (0.7%) and detection rate is greater than or equal to 75%. If negative, the patient's carrier risk is reduced from 1/147 to less than 1/585 (0.2%).[PMID: 20672374]
statusACTIVE

Fully-Specified Name

componentPCDH15 gene.c.733C>T
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 namePCDH15 c.733C>T 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

first released
last updated2.56
last change typeMIN  - change to field other than name
change reasonThe 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

Blood
CDHR15
DFNB23
Genetics
hearing loss
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Ordinal
PCDH15 c.733C>
T
PCR
Point in time
PR
protocadherin-related 15
Ql
Qual
Qualitative
Random
Screen
T prime
Tissue
Tissue, unspecified
USH1F
Usher syndrome type 1F
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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