Neonatal Blood Spot Screening

Question 1

When is the neonatal blood spot test (“Guthrie Test”) performed?

Answer 1

5-9 days of life.

Question 2

What are the 5 conditions that are tested in the guthrie test?

Answer 2

1. congenital hypothyroidism
2. cystic fibrosis
3. phenylketonuria
4. sickle cell disease
5. medium chain acyl-CoA dehydrogenase deficiency (MCADD)