100754-1Platelet disorders multigene analysis in Blood or Tissue by SequencingActive
Term Description
This LOINC code can be used for analysis of genes including but not limited to the following: ANO6, AP3B1, BLOC1S3, BLOC1S6,DTNBP1, FGA, FGB, FGG, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, P2RY12, PLA2G7, PLAU, RASGRP2, TBXA2R, TBXAS1, VIPAS39, VPS33B, VWF, WAS. Disease diagnosed can include Glanzmann's Thrombasthenia, Bernard-Soulier Syndrome, and others.
Source: Regenstrief LOINC
Part Description
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
Fully-Specified Name
- Component
- Platelet disorders multigene analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- Plt disorder gene anal Bld/T Seq
- Display Name
- Platelet disorders multigene analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha
- Platelet disorders multigene analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.73
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
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LOINC Copyright
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