Docsity
Log inSign up
Docsity
Prepare for your exams
Prepare for your exams

Study with the several resources on Docsity

Earn points to download
Earn points to download

Earn points by helping other students or get them with a premium plan

Guidelines and tips
Guidelines and tips
Sell on Docsity
Sell on Docsity
Log inSign up

Prepare for your exams

Study with the several resources on Docsity

Find documents

Prepare for your exams with the study notes shared by other students like you on Docsity

Search Store documents

The best documents sold by students who completed their studies

Search through all study resources
Docsity AINEW

Summarize your documents, ask them questions, convert them into quizzes and concept maps

Explore questions

Clear up your doubts by reading the answers to questions asked by your fellow students

Earn points to download

Earn points by helping other students or get them with a premium plan

Share documents
download point icon20 Points

For each uploaded document

Answer questions
download point icon5 Points

For each given answer (max 1 per day)

All the ways to get free points
Get points immediately

Choose a premium plan with all the points you need

Study Opportunities

Choose your next study program

Get in touch with the best universities in the world. Search through thousands of universities and official partners

Community

Ask the community

Ask the community for help and clear up your study doubts

University Rankings

Discover the best universities in your country according to Docsity users

Free resources

Our save-the-student-ebooks!

Download our free guides on studying techniques, anxiety management strategies, and thesis advice from Docsity tutors

From our blog

Exams and Study
Go to the blog

Genetic Tests and Technologies, Study notes of Medicine

The University of SheffieldMedicine

This document provides an overview of genetic tests and technologies, covering diagnostic, carrier, predictive, and prenatal testing, as well as paternity and identity testing. It explains the role of genetic testing in confirming diagnoses, informing management, and providing recurrence risks. The guide compares Sanger sequencing with next-generation sequencing (NGS), highlighting their uses, costs, and data analysis challenges. It also discusses the ethical implications of eugenics and contrasts it with the non-directive approach of genetic counselling. This resource is essential for understanding the applications and ethical considerations of genetic testing in clinical practice.

Typology: Study notes

2024/2025

Available from 03/12/2025

charles-khama
charles-khama 🇮🇹

1.3

(3)

2.9K documents

1 / 3

Toggle sidebar

This page cannot be seen from the preview

Don't miss anything!

bg1
pf3

Partial preview of the text

Download Genetic Tests and Technologies and more Study notes Medicine in PDF only on Docsity!

3/12/25, 1:54 PM about:blank Genetic Tests and Technologies Genetic Tests and Technologies ‘Types of genetic test: 1. Testing for genetic conditions: 11 Diagnostic 0 Carrier d Predictive (1 Prenatal tests 2. Testing to clarify familial relationships: (1 Paternity testing 3. Genetic testing to determine identity: (1 Genetic finger printing Role of genetic testing: 1D To confirm a clinical diagnosis 2 To give information about prognosis 3 To inform management To allow predictive testing in close relatives 2 Carrier testing 3 To give accurate recurrence risks © Prenatal diagnosis SANGER SEQUENCING NEXT GENERATION SEQUENCING Uses PCR to amplify regions of interest followed by sequencing of products Usefil for single gene testing Single start point (primer) Single DNA fragment sequenced Can sequence whole human genome in one day Multi-gene panels; high throughput Library of DNA fragments Massively parallel sequencing High cost per gene Simple analysis; very accurate Low cost per gene Huge amounts of raw data to interpret; moderately accurate 113.