genetic testing

Question 1

what are the different types of genetic testing?

Answer 1

Prenatal screening
Newborn screening
Carrier screening
Diagnostic screening, 
presymptomatic diagnosis

Question 2

what are 2 benefits of early screening?

Answer 2

1. Reverse disease process

2. Prevention-> can make informed reproductive decision

Question 3

What type of test should you do if you’re not sure what is genes are causing a persons condition ?

Answer 3

Whole exome test

Question 4

What are the 2 types of prenatal genetic tests?- when can you do them- what do they involve

Answer 4

1. Chorinic villus sampling can be offered from about 11 weeks of pregnancy and involves taking a small piece from the placenta with a needle through the mother’s abdomen or can be done transcervically
2. Amniocentesiscan be carried out from about 15 weeks of pregnancy and also involves a needle through the mother’s abdomen to take a sample of the amniotic fluid from around the baby

Question 5

What conditions does the newborn healprick test screen for?

Answer 5

Sickle cell disease, phenylketonuria, Cystic Fibrosis, Congenital hypothyroidism Medium-chain acyl Co-A dehydrogenase deficiency (MCADD).