94241-7
LOINC Code
| LOINC code | 94241-7 | |
|---|---|---|
| name | ||
| description | Full gene sequence analysis of the BTK gene to identify a pathogenic mutations and confirm a diagnosis of X-linked agammaglobulinemia (XLA) in male patients with a clinical history and laboratory findings (e.g. recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, and with or without abnormal Bruton tyrosine kinase (Btk) protein expression by flow cytometry). For female relatives of male XLA patients who do not demonstrate carrier phenotype by Btk flow cytometry, this test may also be performed. | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | BTK gene 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 | Sequencing | |
Additional Names | ||
| short name | Agammaglobulinaemia tyrosine kinase gene; AGMX1; AT; ATK; B cell progenitor kinase gene; Blood; BPK; Bruton agammaglobulinemia tyrosine kinase; Bruton agammaglobulinemia tyrosine kinase gene; Bruton's tyrosine kinase gene; Document; Finding; Findings; ful | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | BTK gene Full M | |
History/Usage | ||
| first released | ||
| last updated | 2.68 | |
| last change type | ADD - added | |
Related Names | ||
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