What is the Guthrie test and why is it done?
The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infant’s heel, and the cards are saved for later testing.
Why is it called a Guthrie test?
The classical Guthrie test is named after Robert Guthrie, an American bacteriologist and physician who devised it in 1962. The test has been widely used throughout North America and Europe as one of the core newborn screening tests since the late 1960s.
How do you test for phenylketonuria?
PKU can be easily detected with a simple blood test. All states in the United States require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.
When is Guthrie test done?
The Guthrie test (newborn screening for phenylkeytonuria and thyroid function test) is performed when a child is 6 days old. Capillary blood sampling in neonates is generally through a heel prick.
What does abnormal test results mean?
Positive or abnormal, which means the disease or substance was found. Inconclusive or uncertain, which means there wasn’t enough information in the results to diagnose or rule out a disease. If you get an inconclusive result, you will probably get more tests.
What does the Nbbs test for?
The blood spot screening test means that babies with sickle cell disease can receive early treatment to help them live healthier lives. This may include vaccinations and antibiotics to prevent serious illnesses. Pregnant women are also routinely tested for sickle cell disease early in pregnancy.
What does the Guthrie test look for?
The Newborn Metabolic Screening Programme screens for rare but potentially serious disorders such as phenylketonuria (PKU), cystic fibrosis, and congenital hypothyroidism. A blood sample is taken from your baby’s heel at or as soon as possible after 48 hours of age (the ‘heel prick’ or ‘Guthrie’ test).
What organs does phenylketonuria affect?
Too much phenylalanine in the body causes problems with the brain and other organs. Damage from a buildup of phenylalanine can begin within the first month of life and, if undetected and/or untreated, PKU results in severe mental retardation, hyperactivity, and seizures.
Can you have PKU and not know it?
Newborns with PKU initially don’t have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.
What tests are done at birth?
The most common newborn screening tests in the US include those for hypothyrodism (underactivity of the thyroid gland), PKU (phenylketonuria), galactosemia, and sickle cell disease. Testing for hypothyroidism and PKU is required in virtually all States.
Should I be worried about abnormal blood test?
There’s no magic about the cutoff point for calling a test result abnormal. Just as in the man with prostate cancer, a result in the normal range can still be a sign of disease. And results that are outside the normal range (“abnormal”) don’t mean a person has a disease.