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Cytogenetics is a subcategory of genetics that specifically studies chromosomes and their structures. "Trained cytogeneticists examine the number, shape, and staining pattern of these structures using special technologies. In this way, they can detect extra chromosomes, missing chromosomes, missing or extra pieces of chromosomes, or rearranged chromosomes."<ref name="AACCGenetic19" /> Some diseases occur as the result of these chromosomal anomalies; for example, amplification of a particular gene in breast cancer or translocation of part of a chromosome in chronic myelogenous leukemia may be spotted with cytogenetic techniques.<ref name="AACCGenetic19" />
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The cytogenetics laboratory depends on several analytical techniques to make these sorts of genetic discoveries in a patient. Methods include chromosome analysis or karyotyping, fluorescence ''in situ'' hybridization (FISH), and microarray-based assays such as comparative genomic hybridization.<ref name="AACCGenetic19" /><ref name="MayoClinicCyto">{{cite web |url=https://www.mayoclinic.org/departments-centers/laboratory-medicine-pathology/overview/specialty-groups/laboratory-genetics/cytogenetics-laboratory |title=Cytogenetics Laboratory |work=Departments and Centers: Laboratory Medicine and Pathology |publisher=Mayo Clinic |accessdate=18 November 2021}}</ref><ref name="YaleCyto">{{cite web |url=https://medicine.yale.edu/lab/cytogenetics/testing/ |title=Cytogenetics Lab Tests |work=Cytogenetics Lab |publisher=Yale School of Medicine |accessdate=18 November 2021}}</ref> Karyotyping involves the separation of whole chromosomes from the nuclei of cells that have been stained with special dyes, cutting and arranging the resulting imagery of those chromosomes, and examining the results. FISH uses special "probes" that fluoresce gene segments of chromosomes. The position and number of the fluoresced gene segments is then analyzed for abnormalities.<ref name="AACCGenetic19" /> And the comparative genomic hybridization assay uses a complicated process of using a "competitive" form of FISH that compares two DNA sources, which are denatured so they are single-stranded, and hybridizes the two samples in a 1:1 ratio to a normal metaphase spread of chromosomes.<ref name="WeissComp99">{{cite journal |title=Comparative genomic hybridization |journal=Molecular Pathology |author=Weiss, M.M.; Hermsen, M.A.; Meijer, G.A. et al. |volume=52 |issue=5 |pages=243–51 |year=1999 |doi=10.1136/mp.52.5.243 |pmid=10748872 |pmc=PMC395705}}</ref>
==''Introduction to Quality and Quality Management Systems''==
{{ombox
| type      = content
| style    = width: 500px;
| text      = This book should not be considered complete until this message box has been removed. This is a work in progress.
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The goal of this short volume is to act as an introduction to the quality management system. It collects several articles related to quality, quality management, and associated systems.


Like a normal medical diagnostic laboratory, the cytogenetics laboratory must follow a set of good practices, many of which are similar to the medical diagnostic lab. However, additional considerations to good practice specific to the cytogenetics laboratory are typically required, particularly in being assessed for accreditation. In Australia, for example, the National Pathology Accreditation Advisory Council (NPAAC) makes recommendations on the accreditation of laboratories providing cytogenetic services.<ref name="NPAACRequire13">{{cite book |url=https://www1.health.gov.au/internet/main/publishing.nsf/Content/76FFC342EA4F4CCBCA257BF0001D7A2A/$File/V0.22%20Cytogenetics.pdf |format=PDF |title=Requirements for Cytogenetic Testing, Third Edition |author=National Pathology Accreditation Advisory Council |publisher=Commonwealth of Australia |edition=3rd |year=2013 |isbn=9781742419572 |accessdate=18 November 2021}}</ref> The College of American Pathologists (CAP) does something similar with its Cytogenetics Checklist for its CAP Accreditation Program.<ref name="CAPCyto17">{{cite web |url=https://elss.cap.org/elss/ShowProperty?nodePath=/UCMCON/Contribution%20Folders/DctmContent/education/OnlineCourseContent/2017/LAP-TLTM/checklists/cl-cyg.pdf |format=PDF |title=Cytogenetics Checklist |author=College of American Pathologists |date=21 August 2017 |accessdate=18 November 2021}}</ref>
;1. What is quality?
:''Key terms''
:[[Quality (business)|Quality]]
:[[Quality assurance]]
:[[Quality control]]
:''The rest''
:[[Data quality]]
:[[Information quality]]
:[[Nonconformity (quality)|Nonconformity]]
:[[Service quality]]
;2. Processes and improvement
:[[Business process]]
:[[Process capability]]
:[[Risk management]]
:[[Workflow]]
;3. Mechanisms for quality
:[[Acceptance testing]]
:[[Conformance testing]]
:[[Clinical quality management system]]
:[[Continual improvement process]]
:[[Corrective and preventive action]]
:[[Good manufacturing practice]]
:[[Malcolm Baldrige National Quality Improvement Act of 1987]]
:[[Quality management]]
:[[Quality management system]]
:[[Total quality management]]
;4. Quality standards
:[[ISO 9000]]
:[[ISO 13485]]
:[[ISO 14000|ISO 14001]]
:[[ISO 15189]]
:[[ISO/IEC 17025]]
:[[ISO/TS 16949]]
;5. Quality in software
:[[Software quality]]
:[[Software quality assurance]]
:[[Software quality management]]


==References==
<!--Place all category tags here-->
{{Reflist|colwidth=30em}}

Latest revision as of 19:46, 9 February 2022

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Introduction to Quality and Quality Management Systems

This book should not be considered complete until this message box has been removed. This is a work in progress.

The goal of this short volume is to act as an introduction to the quality management system. It collects several articles related to quality, quality management, and associated systems.

1. What is quality?
Key terms
Quality
Quality assurance
Quality control
The rest
Data quality
Information quality
Nonconformity
Service quality
2. Processes and improvement
Business process
Process capability
Risk management
Workflow
3. Mechanisms for quality
Acceptance testing
Conformance testing
Clinical quality management system
Continual improvement process
Corrective and preventive action
Good manufacturing practice
Malcolm Baldrige National Quality Improvement Act of 1987
Quality management
Quality management system
Total quality management
4. Quality standards
ISO 9000
ISO 13485
ISO 14001
ISO 15189
ISO/IEC 17025
ISO/TS 16949
5. Quality in software
Software quality
Software quality assurance
Software quality management


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