Contents
-
-
-
-
-
-
Genetic laboratory techniques Genetic laboratory techniques
-
Molecular genetics Molecular genetics
-
Linkage analysis Linkage analysis
-
Gene screening Gene screening
-
DNA sequence analysis DNA sequence analysis
-
Pre-screening analysis Pre-screening analysis
-
Copy number analysis Copy number analysis
-
-
Known mutation detection Known mutation detection
-
ARMS analysis ARMS analysis
-
-
-
Molecular cytogenetic techniques Molecular cytogenetic techniques
-
Fluorescence in situ hybridization (FISH) Fluorescence in situ hybridization (FISH)
-
Basic principles of FISH Basic principles of FISH
-
Types of probes Types of probes
-
Resolution of structural abnormalities Resolution of structural abnormalities
-
Microdeletion detection Microdeletion detection
-
Samples for FISH analysis Samples for FISH analysis
-
FISH methodology FISH methodology
-
-
-
Array comparative genomic hybridization (array CGH) Array comparative genomic hybridization (array CGH)
-
Basic principles Basic principles
-
-
Genetic laboratory reports Genetic laboratory reports
-
Sample requirements Sample requirements
-
Known mutation tests Known mutation tests
-
-
Consent Consent
-
Turnaround times Turnaround times
-
Cytogenetics Cytogenetics
-
Molecular genetics Molecular genetics
-
-
Reporting Reporting
-
Cytogenetics Cytogenetics
-
Molecular genetics Molecular genetics
-
Gene screening report outcomes Gene screening report outcomes
-
Predictive analysis outcomes Predictive analysis outcomes
-
Confirmatory analysis outcomes Confirmatory analysis outcomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Cite
Extract
Genetic laboratory techniques
A modern genetic diagnostic laboratory includes separate sections for conventional cytogenetics, molecular cytogenetics and molecular genetics. Biochemical genetic laboratory facilities are based in selected centres. However, few tests can be requested locally to the chemical pathology laboratory. In this chapter, a brief account of molecular cytogenetics and molecular genetics is provided.
Molecular genetics
An increasing range of molecular genetic techniques is available for the analysis of DNA. The available techniques are evolving constantly, providing improvement to the sensitivity of mutation detection and speed at which genetic conditions can be confirmed or excluded at the molecular level. The majority of molecular genetic analyses are initiated with the polymerase chain reaction (PCR), which promotes the amplification of a specific region of DNA for further molecular analysis (Fig. 3.1).
...
The type of molecular genetic analysis employed depends upon the type of mutation to be detected.
Linkage analysis of multiple affected and unaffected individuals from a single family, confirms or excludes the association of a familial genetic condition with a given chromosomal location or gene. It does not identify a familial mutation.
Sign in
Get help with accessPersonal account
- Sign in with email/username & password
- Get email alerts
- Save searches
- Purchase content
- Activate your purchase/trial code
Institutional access
- Sign in through your institution
- Sign in with a library card Sign in with username/password Recommend to your librarian
Institutional account management
Sign in as administratorPurchase
Our books are available by subscription or purchase to libraries and institutions.
Purchasing informationMonth: | Total Views: |
---|---|
September 2023 | 1 |
January 2024 | 1 |
April 2024 | 1 |
Get help with access
Institutional access
Access to content on Oxford Academic is often provided through institutional subscriptions and purchases. If you are a member of an institution with an active account, you may be able to access content in one of the following ways:
IP based access
Typically, access is provided across an institutional network to a range of IP addresses. This authentication occurs automatically, and it is not possible to sign out of an IP authenticated account.
Sign in through your institution
Choose this option to get remote access when outside your institution. Shibboleth/Open Athens technology is used to provide single sign-on between your institution’s website and Oxford Academic.
If your institution is not listed or you cannot sign in to your institution’s website, please contact your librarian or administrator.
Sign in with a library card
Enter your library card number to sign in. If you cannot sign in, please contact your librarian.
Society Members
Society member access to a journal is achieved in one of the following ways:
Sign in through society site
Many societies offer single sign-on between the society website and Oxford Academic. If you see ‘Sign in through society site’ in the sign in pane within a journal:
If you do not have a society account or have forgotten your username or password, please contact your society.
Sign in using a personal account
Some societies use Oxford Academic personal accounts to provide access to their members. See below.
Personal account
A personal account can be used to get email alerts, save searches, purchase content, and activate subscriptions.
Some societies use Oxford Academic personal accounts to provide access to their members.
Viewing your signed in accounts
Click the account icon in the top right to:
Signed in but can't access content
Oxford Academic is home to a wide variety of products. The institutional subscription may not cover the content that you are trying to access. If you believe you should have access to that content, please contact your librarian.
Institutional account management
For librarians and administrators, your personal account also provides access to institutional account management. Here you will find options to view and activate subscriptions, manage institutional settings and access options, access usage statistics, and more.