Genetic Testing

Question 1

Methods for detecting novel sequence variation

Answer 1

1. Sanger sequencing
2. Pyrosequencing
3. NGS

Question 2

Pyrosequencing

Answer 2

1. dNTPs washed over flow cell one at a time
2. if a dNTP is incorporated into a growing strand by polymerase, PPi is released
3. PPi is used to generate ATP by sulfurylase
4. ATP is converted to light by luciferase
5. light = that nucleotide was incorporated

Question 3

Pyrosequencing

Answer 3

is a method of DNA sequencing (determining the order of nucleotides in DNA) based on the “sequencing by synthesis” principle, in which the sequencing is performed by detecting the nucleotide incorporated by a DNA polymerase.

Pyrosequencing relies on light detection based on a chain reaction when pyrophosphate is released. Hence, the name pyrosequencing.

Question 4

NGS technologies are used clinically for:

Answer 4

whole genome sequencing (WGS), whole exome sequencing (WES), gene panel testing and increasingly for single gene testing

Question 5

Here are some of the key things to consider about genetic testing:

Answer 5

Benefits: It can provide valuable information about your health risks, help with family planning, and give you peace of mind.

Limitations: A positive test result doesn’t always mean you will get a disease, and a negative result doesn’t guarantee you won’t. Genetic testing can also be complex and the results may not be entirely clear.

Privacy: Genetic information is sensitive and there are potential privacy risks associated with testing.