Table of contents

Overview

The Alberta Newborn Screening Program* screens for 21 treatable conditions (16 metabolic conditions, 2 endocrine conditions, cystic fibrosis, sickle cell disease, and severe combined immunodeficiency).

Beginning February 28, 2022, babies will be screened for spinal muscular atrophy (SMA) through a pilot program funded by Muscular Dystrophy Canada. The SMA screening test will become part of Alberta’s publicly funded newborn screening program after the pilot program is completed.

Related: Alberta to screen babies for spinal muscular atrophy

The Alberta Newborn Screening Program is done through newborn blood spot screening to help find conditions that can be treated early. Early treatment can help prevent health problems, improve a baby's health and may even save a baby's life.

Through the Alberta Newborn Screening Program, Alberta Health determines which conditions are screened and Alberta Health Services delivers the program. Program resources are available through Alberta Health Services.

Conditions screened

Metabolic Conditions

  • Biotinidase deficiency (BIOT)
  • Carnitine uptake defect (CUD)
  • Citrullinemia (CIT)
  • Glutaric acidemia type 1 (GA1)
  • Classic galactosemia (GALT)
  • 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency
  • Isovaleric acidemia (IVA)
  • Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
  • Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
  • Methylmalonic acidemia (MMA)
  • Maple syrup urine disease (MSUD)
  • Propionic acidemia (PA)
  • Phenylketonuria (PKU)
  • Tri-functional protein (TFP) deficiency
  • Tyrosinemia Type 1 (TYR1)
  • Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency

Endocrine Conditions

  • Congenital adrenal hyperplasia (CAH)
  • Congenital hypothyroidism (CH)

Cystic Fibrosis (CF)

Sickle Cell Disease (SCD)

Severe Combined Immunodeficiency (SCID)

Related

Newborn Metabolic Screening Program policy

*Known formerly as the Newborn Metabolic Screening (NMS) Program.

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