GALC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method 87738-1
LOINC Code
| LOINC code | 87738-1 | ||
|---|---|---|---|
| name | GALC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method | ||
| description | This test includes full sequencing analysis of all the coding regions and intron/exon boundaries of the GALC gene as well as deletion/duplication analysis, particularly for a 30-kb deletion encompassing exon 11 through the end of the GALC gene. Testing is performed for the diagnosis of Krabbe disease or for carrier testing in individuals with a family history of Krabbe disease but no known mutations in the family. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | GALC gene deletion+duplication & full mutation analysis | ||
| 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 | GALC Del+Dup + Full Mut Anl Bld/T | ||
Basic Attributes | |||
| class | MOLPATH | ||
| 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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