94241-7
BTK gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term 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.
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP33144-4 BTK gene
The BTK gene (Bruton agammaglobulinemia tyrosine kinase) [HGNC Gene ID:1133] is located on chromosome Xq21.33-q22. The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] [NCBI Gene ID:695]
Source: National Center for Biotechnology Information (NCBI) Gene
LP33144-4 BTK gene
Patients with chronic lymphocytic leukemia (CLL) with disease progression treated with ibrutinib has been attributed to histologic transformation or acquired mutations in BTK and PLCG2 genes. PMID: 28049639
Source: PubMed Central
LOINC Names Get Info
- Fully-Specified Name
- BTK gene full mutation analysis:
Find: Pt: Bld/Tiss: Doc: Sequencing - Long Common Name
- BTK gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- BTK gene Full Mut Anl Bld/T Seq
- Display Name
- BTK gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- BTK gene variant analysis, Blood or tissue specimen
Part Model Get Info
- Component
- BTK gene full mutation analysis
LP417525-5
- Analyte
- BTK gene full mutation analysis
LP417525-5
- Component Numerator
- BTK gene full mutation analysis
LP417525-5
- Component Numerator Core
- BTK gene
LP33144-4
- Component Numerator Core Suffix
- full mutation analysis
LP150044-8
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Find
LP6813-2
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld/Tiss
LP7061-7
- System Core
- Bld/Tiss
LP7061-7
- Super System
- NULL
- Scale
- Doc
LP32888-7
- Method
- Sequencing
LP150045-5
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68 (ADD)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen BTK kompletní mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο BTK πλήρης ανάλυση μεταλλάξεων: Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο BTK Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων |
| es-ES | Spanish (Spain) | Gen BTK Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen BTK: |
| fr-FR | French (France) | BTK gène analyse complète des mutations: |
| it-IT | Italian (Italy) | BTK, gene Analisi di mutazione completa: Synonyms: Gene BTK Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | BTK-gen volledige mutatie-analyse: Synonyms: BTK gen |
| pl-PL | Polish (Poland) | BTK gen pełna analiza mutacji: Synonyms: Gen BTK |
| tr-TR | Turkish (Turkey) | BTK geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | BTK 基因 全面突变分析: Synonyms: AGMX1; |
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://