TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method   77751-6

LOINC Code


LOINC code77751-6
nameTMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method
descriptionThe presence of the TMEM216 gene mutation c.218G>T (p.R73L, NM_001173990.1) is associated with Joubert syndrome type 2. Among Ashkenazi Jewish individuals, the carrier frequency is 1/92 (1.1%) and detection rate is approximately 99%. If negative, the patient's carrier risk is reduced from 1/92 to less than 1/9100 (0.01%).[PMID: 20036350]
statusACTIVE

Fully-Specified Name

componentTMEM216 gene.c.218G>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 nameTMEM216 c.218G>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

test rank7512 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 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
Cerebello-oculorenal Syndrome 2
Genetics
Heredity
Heritable
HSPC244
Inherited
Joubert Syndrome type 2
Meckel-Gruber Syndrome Type 2
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Ordinal
PCR
Point in time
PR
QL
Qual
Qualitative
Random
Screen
T prime
Tissue
Tissue, unspecified
TMEM216 c.218G>
T
transmembrane protein 216
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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