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Metabolic Screening Test

The Metabolic Screening test is one of the most important and first tests that a newborn is recommended to have between 24-72 hours.  It screens for 25 metabolic related diseases which are rare but are conditions that affect your body’s ability to properly break down and process substances like fats, proteins and sugars in milk and food.  These substances can become toxic if left to build up in the body over time and can affect your babys normal and healthy growth as well as possibly developing conditions that can become very serious and even fatal if not found and treated.  It is rare to find these disorders but can ensure the right treatments can be put in place as soon as possible.

The test will look at the 25 metabolic related disorders in the different categories of:

    • Organic Acid Disorders
    • Fatty Acid Oxidation Disorders
    • Amino Acid Disorders

How is the Test Done

A gentle ‘prick to the heel’ to your baby will collect a few drops of blood onto a special filter paper that will be sent to a Laboratory for screening.

Test Results

Positive Screening – important to remember does not mean you baby has a disorder.  If positive is detected you will notified immediately and follow up assessments will be made.  If a diagnosis is made then the appropriate treatment will start right away.

Negative Screening – means a very low probability of having any metabolic disorders

Borderline Screening – occasionally a second sample will be taken if the results were borderline or inconclusive – you will be told if this is recommended before it takes place

Test Results

The test is not compulsory – you can opt out of having the test done on your baby if you choose to.

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