LOINC
Version 2.73

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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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100754-1