TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method 77751-6
LOINC Code
| LOINC code | 77751-6 | ||
|---|---|---|---|
| name | TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method | ||
| description | The 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] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | TMEM216 gene.c.218G>T | ||
| property | PrThr = 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. | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
| scale | Ord = Ordinal: Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive. | ||
| method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
| short name | TMEM216 c.218G>T Bld/T Ql | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
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 rank | 7512 of 2000 most commonly performed tests by labs in USA | ||
| first released | |||
| last updated | 2.73 | ||
| last change type | MIN - change to field other than name | ||
| change reason | 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 | |||
| |||
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.
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com