Array testing/ethical issues/counselling issues Flashcards

1
Q

Why might follow-up testing be required post-array? (4)

A

Complex array results- may need further testing to aid interpretation or shine more light on abnormality that has been found

Confirmation of the array result

To allow a recurrence risk for parents to be calculated

Carrier testing for other at-risk family members

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2
Q

Why is array first-line for learning disability? (3)

A

Looks at whole genome

Sensitive due to number of probes- particularly as in learning disability the abnormality is small and can’t be seen on karyotype

Do not need to “guess” chromosomal location based on symptoms and use a particular probe

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3
Q

What are karyotype and FISH used for?

A

Confirmation of an abnormal result

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4
Q

Ethical issues associated with patient consent (3)

A

Respect for patient autonomy- patient has right to make decision

Importance of adequate information supplied- informed consent

If individual is under 16 or incapable of giving consent, parent or responsible guardian can consent for them

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5
Q

Two of the main reasons why variants are sometimes classified as VOUS?

A

If the mutation is previously known, association with clinical features may be weak or the function of genes involved are unknown

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6
Q

How should patients be counselled regarding VOUS?

A

Informed during pre-test counselling that VOUS may be the outcome; also inform that variant may be re-classified in the future

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