Chromosome region 17p11.2 deletion in Blood or Tissue by FISH 95551-8
LOINC Code
| LOINC code | 95551-8 | ||
|---|---|---|---|
| name | Chromosome region 17p11.2 deletion in Blood or Tissue by FISH | ||
| description | FISH studies are performed using a probe targeting the p11.2 region on chromosome 17 to detect a deletion 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. LOINC codes with a Scale of "Doc" can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.). | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Chromosome region 17p11.2 deletion | ||
| property | Find = Finding | ||
| 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 | Doc = Document: A document that could be in many formats (XML, narrative, etc.) | ||
| method | FISH | ||
Additional Names | |||
| short name | Chr 17p11.2 Del Bld/T FISH | ||
Basic Attributes | |||
| class | MOLPATH.DELDUP | ||
| 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 | 2.69 | ||
| last change type | ADD - added | ||
Related Names | |||
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