How long do Guthrie test results take?

Results are usually available about two weeks after the test, when they’re sent to your midwife or the centre where your baby was born.

What is the Guthrie blood test for?

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.

What is the normal level of phenylalanine?

Normal levels of phenylalanine in the blood are less than 2 milligrams per deciliter (mg/dL). More than 4 mg/dL of phenylalanine in the blood is considered high and may mean your child has PKU.

What is the normal range for PKU?

A normal level is less than 2 milligrams per deciliter (mg/dL). More than 4 mg/dL is considered high.

What should be done when a baby is tested a positive NBS result?

A POSITIVE SCREEN means that the newborn must be brought back to his/her health practitioner for further testing. What must be done when a baby has a positive ENBS result? Babies with positive results must be referred at once to a specialist for confirmatory testing and further management.

What is the newborn blood spot test?

What is the blood spot test? Newborn blood spot screening involves taking a blood sample to find out if your baby has 1 of 9 rare but serious health conditions. Most babies won’t have any of these conditions but, for the few who do, the benefits of screening are enormous.

Why do we give vitamin K to newborns?

Low levels of vitamin K can lead to dangerous bleeding in newborns and infants. The vitamin K given at birth provides protection against bleeding that could occur because of low levels of this essential vitamin. Below are some commonly asked questions and their answers.

What is Phe level?

The ideal range for blood Phe levels is around 2-6mg/dl (120-360 µmol/L). For young chil- dren, many PKU doctors recommend striving for the lower portion of this range. The target Phe range ensures that the body is provided enough Phe for essential functions.

What causes high phenylalanine levels?

A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.

When is PKU test most reliable?

The test should be done no sooner than 24 hours after birth, to ensure the baby has taken in some protein, either from breast milk or formula. This will help ensure the results are accurate. But the test should be done between 24–72 hours after birth to prevent possible PKU complications.

What does abnormal PKU mean?

Thalassemia. Phenylketonuria (also called PKU) is a condition in which your body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes health problems.

What are the results of the Guthrie blood test?

The Guthrie blood test samples that are taken will also be used to detect several additional genetic conditions that are important to begin treating right away. Here are the results which may be communicated to new parents after the blood test results are offered. 1. Galactosemia.

What does a Guthrie test for phenylketonuria mean?

Therefore, a positive Guthrie test for phenylketonuria is one in which the bacterial culture is able to grow. When the bacterial culture cannot grow, the test is negative. When a positive test result is obtained, the baby’s physician is contacted. The physician then arranges for further testing to determine why phenylalanine levels are elevated.

Where did the Guthrie test kits come from?

In 1962, Guthrie entered a contract with Ames Company in Elkhart, Indiana, a division of Miles Laboratories, to produce and market Guthrie test kits to hospitals. However, Ames Company stipulated that they would only enter a contract if the test received a patent.

How many cases of PKU did Guthrie test for?

Guthrie found that his test detected twenty-one positive cases of PKU that were also confirmed by the quantitative blood assay, and the ferric chloride urine test only detected seventeen of those cases, meaning that the ferric chloride urine test failed to detect four cases of PKU.