SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal 72654-7
LOINC Code
| LOINC code | 72654-7 | ||
|---|---|---|---|
| name | SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal | ||
| description | Approximately 70% of cases of Prader-Willi syndrome (PWS) are caused by paternal deletion of the 15q11-q13 region. This region includes the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene. This code is based on, but not limited to, Kreatech Diagnostic's MD Prader-Willi SNRPN (15q11) region probe to detect copy numbers of the SNRPN gene region at 15q11. Labs may report the X number of cells out of Y number that have the probe deletion (or duplication), which is usually 100% if present (i.e. 20 out of 20, 100%). Result are reported in ISCN (International System for Human Cytogenetic Nomenclature) format. This test does not detect uniparental disomy (UPD, LOINC 34503-3), which may also cause PWS (and Angelman syndrome, AS). | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | SNRPN gene 15q11 deletion+duplication | ||
| property | Prid = Presence or identity: Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte. | ||
| 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 | Nom = Nominal: Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody. | ||
| method | FISH | ||
Additional Names | |||
| short name | SNRPN 15q11 Del+Dup Bld/T FISH | ||
Basic Attributes | |||
| class | MOLPATH.DEL | ||
| 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 | |||
| first released | |||
| last updated | 2.61 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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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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