Medical Genetics in the Clinic Flashcards

1
Q

Who does genetic counseling?

A

Clinical geneticist
Genetic counsellor
Hospital doctor
GP
Nurse

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2
Q

What happens after clinical examination in the clinical assessment?

A

Genetic testing - Microarray, gene tests

(microarray - tool detects expression of thousands of genes at same time)

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3
Q

What are variants of uncertain significance?

A

Classification means pathogenicity of variant can neither be confirmed nor ruled out

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