94188-0
LOINC Code
| LOINC code | 94188-0 | |
|---|---|---|
| name | ||
| 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 | Adenomatosis polyposis coli; adenomatous polyposis coli; Adenomatous polyposis of the colon; Amplification; Blood; BTPS2; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; DP2; DP2.5; DP3; Familial adenomatous polyposis; FAP; Finding; Finding | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | APC gene Del+Du | |
History/Usage | ||
| first released | ||
| last updated | 2.68 | |
| last change type | ADD - added | |
Related Names | ||
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