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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.
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Mrs Graham - Lancashire
“I would just like to express my sincere thanks to Medichecks for the speedy and efficient service you have provided. My blood test results were back to me in less than 24 hours and the follow up phone contact and email reports have been extremely helpful.
I have nothing but praise for both the staff who I have been in contact with and obviously the people one never meets in the background who carry out the tests and admin. I would recommend your company to anyone for the courteous, friendly, proffesional and considerate way you deal with clients, I will definitely come back to you if I need any further help with concerns about health issues.
Mrs Manarin - Hertfordshire
“You have been very helpful and went beyond your duties; so good to know that there are still people out there that care about others!