A Guthrie test is a blood test which is carried out on newborn babies. The test is used to detect an inherited genetic disorder called phenylketonuria.
The disorder is caused by a defect in the metabolic pathway which breaks down the amino acid phenylalanine. If untreated, phenylketonuria can cause severe intellectual disability, and early detection via this test is vital.
A Guthrie test is also used to screen for other diseases in addition to phenylketonuria. Additional conditions that may be tested for include cystic fibrosis, congenital hypothyroidism, and sickle cell anaemia.
We will send you your Guthrie Test blood sample collection kit together with the details of a convenient clinic where you can go and have your sample taken.
Your Guthrie Test includes 1st class postage and packaging for you to send your blood sample directly to our laboratory for analysis. If you live in an area where you cannot rely on the post or you simply want to ensure that your sample arrives at the laboratory the following day, you may wish to send your blood sample guaranteed next day delivery for extra reassurance.