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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 Buckley - Suffolk
“I am just writing to say what excellent service I have received in relation to the Vit D test I ordered. I phoned to ask about using Recorded Delivery and had a really warm, friendly and informed and professional response from a very, very nice lady who took the call. There wasn't a lengthy and frustrating "press Number "-" for . . . " to go through before my call was answered and I didn't have to wait in a queue for my call to be answered and once answered I didn't feel "rushed" at all during the call. This morning I received an email to say my results were available online and I was also called to be told my results by the same really nice woman I spoke with yesterday as she said she recognised my Results and wanted to reassure me as quickly as possible given the trouble I had had getting enough blood to fill the phial and knowing I was dreading having to possibly redo the test. I can't speak highly enough of the service.”
Miss Taiwo - Lincolnshire
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