Chromosome region 7q11.23 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method 81852-6
LOINC Code
| LOINC code | 81852-6 | ||
|---|---|---|---|
| name | Chromosome region 7q11.23 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method | ||
| description | Deletion/duplication analysis of the 7q11.23 chromosomal region by various methods, including PCR and MLPA. This test is performed for the diagnosis of Williams-Beuren Syndrome (WBS). The WBS critical region (WBSCR) can also be duplicated in patients with 7q11.23 duplication syndrome. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Chromosome region 7q11.23 deletion+duplication | ||
| 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 | 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 | Chr 7q11.23 Del+Dup Bld/T | ||
Basic Attributes | |||
| class | MOLPATH.DELDUP | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
Ask At Order Entry | |||
Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.
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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 | 2.65 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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