Molecular Testing

Question 1

What is single gene sequencing used for?

Answer 1

• Picking up on point mutations and small insertions/deletions in a few clinically relevant genes
• Used if the patient has features of a disease where there is only ONE gene known to cause that condition
• OR used when there is a known family mutation in a specific gene

Question 2

What is multiple gene sequencing (gene panel) used for?

Answer 2

• Used when there may be multiple clinically relevant genes to look at specific exons
• Sent for genetic conditions where there are multiple known causative genes

Question 3

What is whole exome sequencing (WES)?

Answer 3

Used when other genetic tests have not been informative in order to look at all coding regions in multiple genes that may be clinically relevant to the patient

Question 4

Epigenetics relies on ____ rather than actual changes to the DNA code.

Answer 4

Expression of the gene, based on parent of origin

Question 5

What is imprinting? How is it detected?

Answer 5

The process by which only one copy of a gene is expressed (due to additional “stop” or “go” signals) depending on whether it is from the father or the mother. Imprinting disorders are detected via methylation testing.

Question 6

What is MLPA used for?

Answer 6

• Usually used after single gene sequencing when the results are unexpected
• Looks for exon deletions and duplications within a specific gene that may have been missed

Question 7

What is repeat primed PCR used for?

Answer 7

To detect triplet repeat expansions

Question 8

Which genetic test is not yet clinically available?

Answer 8

Whole genome sequencing - looks at all coding and non-coding regions of genes of interest