APC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method 94188-0
LOINC Code
LOINC code | 94188-0 | ||
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name | APC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method | ||
description | Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the APC gene. In addition, deletion/duplication analysis, such as by array comparative genomic hybridization (aCGH), is used to test for the presence of large deletions or duplications in the APC gene. This test is used to confirm a diagnosis of familial adenomatous polyposis (FAP) for patients with clinical findings. | ||
status | ACTIVE | ||
Fully-Specified Name | |||
component | APC 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 | APC gene Del+Dup + Full Mut Anl Bld/T | ||
Basic Attributes | |||
class | MOLPATH | ||
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 | 2.68 | ||
last change type | ADD - added | ||
Related Names | |||
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