RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal 73750-2
LOINC Code
| LOINC code | 73750-2 | ||
|---|---|---|---|
| name | RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal | ||
| description | FISH studies are performed using an SMS probe to detect a deletion or duplication within the critical region of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2. FISH signal pattern indicating a loss of the RAI1 critical region is consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. The answer list provided with this code is an example and not meant to include all possible results. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | RAI1 gene 17p11.2 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 | RAI1 17p11.2 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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