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Newborn Blood Spot Screening

What Conditions Are Screened For?

Biotinidase deficiency (BIOT)
Carnitine uptake defect (CUD)
Citrullinemia (CIT)
Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism (CH)
Cystic fibrosis (CF)
Galactosemia - Classic (GALT)
Glutaric acidemia type 1 (GA1)
3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficienc
Isovaleric acidemia (IVA)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Maple syrup urine disease (MSUD)
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
Methylmalonic acidemia (MMA)
Phenylketonuria (PKU)
Propionic acidemia (PA)
Severe combined immunodeficiency (SCID)
Sickle cell disease (SCD)
Tri-functional protein (TFP) deficiency
Tyrosinemia Type 1 (TYR1)
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency

What causes these conditions?

Most of the time these are genetic conditions. Usually babies are born with them when they inherit a gene that has a change in it from both parents. This change stops the gene from working properly. These conditions are not caused by anything that happened during pregnancy. There may be no signs of these conditions at birth. It’s important to remember that many treatable conditions can’t be seen by looking at your baby.

What if testing shows my baby has one of these conditions?

The specialists will work with you to suggest treatment and make a care plan for your baby if tests show that your baby has one of these conditions. Your healthcare team is there to provide the best care and support possible to you and your baby.

Where can I learn more?

To learn more about newborn screening tests, go to:

Always be careful when you search for information on the internet. There’s a lot of outdated and unreliable information out there that may not be true today.

Current as of: March 25, 2020

Author: Alberta's Newborn Metabolic Screening Program, Alberta Health Services