Diseases Screened By Province

To obtain maximum benefit from newborn screening, Save Babies Through Screening Foundation of Canada recommends that you obtain a test kit from one of these laboratories, no matter where you live. Have an extra blood sample drawn 24-48 hours after birth and ship the sample to the laboratory. Older children and adults can also be screened.

This table was last updated November 27, 2006. Click here to print this table.

Legend            
Y Currently screens Y* Not yet universal Y+ Recent addition or upcoming addition, date identified U Being added to program in the near future, start date unknown
T Targeted screening for specific groups or area V Voluntary P Pilot testing    
               

 

Diseases Screened British- Alberta Saskat- Manitoba Ontario Quebec Nova- New PEI Nfld & Yukon North West Nunavut
   Columbia (1) chewan (2) (3) (4) Scotia
(5)		 Brunswick  (6)  (5)  Labrador
(7)		 (8)

Territories
(9)

 (10)
                        W E W E
 TOTAL 5 18 31 9 29 14 14 13 14 6 5 18 9 9 14
2-Methylbutyryl-CoA dehydrogenase (2MBG)     Y                        
3-Ketothiolase Deficiency (BKT)     Y   U                    
3-Hydroxy 3-methylglutaryl-CoA lyase (HMG)   U  Y   U V           U     V
3-Methylcrotonyl-CoA carboxylase (3MCC)     Y   U V                 V
3-Methylglutaconyl-CoA Hydratase (3MGA)     Y                        
Agininemia (ARG)     Y     V                 V
Argininosuccinic Aciduria Deficiency (ASA)         U V                 V
Biotinidase Deficiency    Y   Y U              Y Y Y  
Carnitine Palmitoyltransferase I (CPT-I)     Y
(Ia - Liver)		 T     Y U Y       T T   
Carnitine Palmitoyltransferase II (CPT-II)     Y       Y U Y            
Carnitine Uptake Defect (CUD)   U      U   Y U Y      U      
Carnitinepalmitoyl Translocase Deficiency (CTL)              Y U Y            
Citrullinemia (CIT)   U Y   U V           U     V
Citrullinemia Type II
(CIT II)		     Y     V                 V
Congenital Adrenal Hyperplasia (CAH)    U   Y U             U Y Y  
Congenital Hypothyroidism (CH) Y Y Y Y Y Y Y Y Y Y Y Y Y Y Y
Cystic Fibrosis (CF)   U     U             U      
Duchenne and Becker Muscular Dystrophy (DMD)        T                 T T  
Galactosemia  Y     Y U           Y   Y Y  
Glutaric Acidemia Type I (GA I)   U  Y T U V Y U Y     U  T T  V
Glutaric Acidemia Type II (GA II)     Y       Y U Y            
Homocystinuria          U         Y          
Hypermethioninemia     Y                        
Isobutyryl-CoA dehydrogenase (IBG)     Y                        
Isovaleric acidemia (IVA)   U Y   U V Y+ U Y+     U     V
Long-chain Hydroxyacyl-CoA Dehydrogenase (LCHAD)   U Y   U   Y+ U Y+     U      
Maple Syrup Urine Disease (MSUD)   U Y   U   Y+ U Y+     U      
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)  Y U Y   Y+    Y Y Y  Y Y U      
Methylmalonic Acidemia (MUT)

     Y   U V                 V
Methylmalonic acidemia - Cbl-A and C   U Y   U
 V           U     V
Methylmalonic acidemia - Cbl-C and D     Y   U V                 v
Multiple carboxylase deficiency (MCD)     Y   U                    
Phenylketonuria (PKU) 
 Y Y Y Y Y Y Y Y Y Y Y Y Y Y Y
Benign Hyperphenylalaninemia (H PHE)     Y                        
Propionic acidemia (PA)   U Y   U             U      
Sickle Cell Anemia (Hb SS)
         Y+
Nov 25 2006		                    
Sickle Beta Thalassemia (Hb S/ß Th)         Y+
Nov 25 2006		                    
Sickle-Hemoglobin C (Hb S/C)         Y+
Nov 25 2006		                    
Short-Chain Acyl-CoA Dehydrogenase Deficieny (SCADD)     Y                        
Trifunctional protein deficiency (TFP)   U Y   U             U      
Tyrosinemia - Type I (TYR-I)     Y   U Y       Y         Y
Tyrosinemia - Type II (TYR-II)     Y             Y          
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)    U Y   U   Y U Y     U       
 SUB TOTAL 4 17 31 8 28 14 13 13 13 6 4 17 8 8 13
Hearing Loss   Y* Y Y* Y* Y Y* Y* Y Y*   Y* Y* Y*
 TOTAL 5 18 31 9 29 14 14 13 14 6 5 18 9 9 14

 

NOTES:                  
1   The Alberta newborn screening program is currently being expanded to include: 3-Hydroxy 3-methylglutaryl-CoA lyase (HMG), Carnitine Uptake Defect (CUD), Citrullinemia (CIT), Congenital Adrenal Hypothyroidism, Glutaric Acidemia Type I (GA I), Isovaleric Acidemia (IVA), Long Chain Hydroxy-Acyl-CoADehydrogenase Deficiency(LCHAD), Maple Syrup Urine Disease (MSUD), Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), Methylmalonic Acidemia (Mutase (MUT) deficiency and Cobalamin (Cbl) A and B), Trifunctional protein deficiency (TFP), and Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD). The program expansion is expected to be completed by April 1 2007. In addition, the result of the pilot testing for Cystic Fibrosis in the Calgary Health Region is that a test for Cystic Fibrosis will be added as part of the expanded newborn screening program.
2   Manitoba has targeted screening for Glutaric Acidemia Type I (GA1) - Ojii-Crees, Carnitinepalmitoyl Transferase Type I (CPT I) - Hutterites, and Duchenne and Becker Muscular Dystrophy (DND) - males.
3   The Ontario screening program is currently undergoing expansion. The program began April 3, 2006, testing for PKU, Congenital Adrenal Hypothyroidism and MCADD. The number of disorders will be increased through the year and by the end of 2006, Ontario will be testing for 27 disorders. The following disorders have yet to be added to the screening program:
3-Hydroxy 3-methylglutaryl-CoA lyase (HMG), 3-Ketothiolase Deficiency (BKT), 3-Methylcrotonyl-CoA carboxylase (3MCC), Argininosuccinic Aciduria Deficiency (ASA), Biotinidase Deficiency , Carnitine Uptake Defect (CUD), Citrullinemia (CIT) , Congenital Adrenal Hyperplasia (CAH) , Galactosemia , Glutaric Acidemia Type I (GA I), Homocystinuria , Isovaleric acidemia (IVA), Long-chain Hydroxyacyl-CoA Dehydrogenase (LCHAD), Maple Syrup Urine Disease (MSUD), Methylmalonic Acidemia (Mutase (MUT) deficiency and Cobalamin (Cbl) A and B), Multiple carboxylase deficiency (MCD), Propionic acidemia (PA), Sickle Cell Disease and Other Hemoglobinopathies (added November 25, 2006), Trifunctional protein deficiency (TFP), Tyrosinemia (TYR) , and Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD). On November 23, 2006 Ontario announced that it would expand the program again to include Cystic Fibrosis in late 2007.
4   Quebec has a unique voluntary urinary screening program for organic and aminoacid disorders commonly known as the "diaper test'. It tests for: 3-Hydroxy 3-methylglutaryl-CoA lyase (HMG), 3-Methylcrotonyl-CoA carboxylase (3-MCC), Agininemia (ARG), Argininosuccinic Aciduria Deficiency (ASA), Citrullinemia (CIT), Citrullinemia Type II (CIT-II), Glutaric Acidemia Type I (GA-I), Isovaleric Acidemia (IVA), Methylmalonic acidemia (Cbl-A, B, C and D; Mut 0 and Mut+).
5   On April 1, 2006, Nova Scotia and PEI expanded their programs to add 3 additional genetic diseases - Isovaleric Acidemia (IVA), Maple Syrup Urine Disease (MSUD), and Long Chain Hydroxy-Acyl-CoADehydrogenase Deficiency(LCHAD).
6   This summer (2006), New Brunswick will be expanding its program to add 8 additional genetic diseases - Carnitine Uptake Defect (CUD), Carnitinepalmitoyl Transferase Type I and II (CPT I and CPT II), Carnitinepalmitoyl Translocase Deficiency (CTL), Glutaric Acidemia Type I and II (GA I and GA II), Isovaleric Acidemia (IVA), Long Chain Hydroxy acyl-CoA Dehydrogenase Deficiency (LCHAD), Maple Syrup Urine Disease (MSUD), Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD), and Very Long Chain acyl-CoA Dehydrogenase Deficiency (VLCAD).
7   The Newfoundland & Labrador screening program for Homocystinuria in all regions as well as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) between June and July 2006.
8   Yukon newborn screening program is covered by British Columbia.
9   North West Territories - The western part of province is covered by Alberta and the eastern part of the province is covered by Manitoba.
10   Nunavut - The western part of province is covered by Manitoba and the eastern part is covered by Quebec.

 

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