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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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Miss Taiwo - Lincolnshire
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Mr Koster - Berkshire
“I would like to thank you for your excellent service and help. I was called on the day you received my samples for a “well man check plus” test by Eileen Hall and was explained how things would proceed. My results came through quickly and a day or 2 later Eileen and I spoke again, at length. Eileen explained my results in a professional, yet friendly and attentive manner, answered my questions and ensured that I was clear about everything. I felt cared for. My report arrived the next day and included recommended life changes and suggestions, and possible further tests that may help me. The whole experience showed that having a health check can be an easy, agreeable and clarifying procedure and one that even the most reticent person could embrace with ease.”