Genetic tests and technologies

Question 1

What tests are offered in Clinical Genetics? (4)

Answer 1

Diagnostic, Carrier, Prenatal and Predictive

Question 2

Tests in forensic laboratory? (2)

Answer 2

1) Paternity (Private too)

2) Genetic Finger Printing

Question 3

Roles of Genetic Testing? (4)

Answer 3

1) Confirm Clinical Diagnosis/ Info on Prognosis
2) Inform Management
3) Predictive testing and carrier testing
4) Recurrence risk and prenatal diagnosis

Question 4

Which test is most commonly used?

Answer 4

Multi-Gene Panels

Question 5

Which test is most effective/efficient

Answer 5

Whole Exome/Genome Sequencing

Question 6

What can detect microdeletions?

Answer 6

Microarray

Question 7

What is chromosome analysis for?

Answer 7

Abnormalities of Chromosome number/structure

Question 8

2 types of sequencing?

Answer 8

1) Sanger - PCR then sequence products (single gene)

2) Next Gen - MG Panels, whole genomes (more expensive)

Question 9

What is a variation of unknown significance?

Answer 9

Don’t know if disease causing or normal variation

Question 10

What is an incidental finding?

Answer 10

Genetic variant found in disease causing genes