Diagnosed Cases

June 2019

Condition Count Primary Secondary
Argininosuccinic aciduria (ASA) Count 1 X
Biotinidase deficiency, partial (BIO partial) Count 1 X
CRMS (CF Related Metabolic Disorder) Count 2 X
Cystic fibrosis (CF) Count 2 X
Cystic fibrosis carrier (CF carrier) Count 12 X
FAB Count 15 X
FASB Count 3 X
FASV Count 2 X
Galactosemia carrier (GALT carrier) Count 8 X
Galactosemia, classical (GALT) Count 1 X
Galactosemia, duarte DG (GALT DG) Count 2 X
Galactosemia, variant (GALT variant) Count 3 X
Hb C-carrier (Hb F,A,C) Count 39 X
Hb C-disease (Hb F,C) Count 1 X
Hb D-carrier (Hb F,A,D) Count 2 X
Hb E-carrier (Hb F,A,E) Count 6 X
Hb S (sickle)-carrier (Hb F,A,S) Count 107 X
Hb SC-disease (Hb F,S,C) Count 1 X
Hb SS-disease (sickle cell anemia) (Hb F,S) Count 1 X
Hypothyroidism, primary congenital (CH) Count 2 X
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Count 3 X
Mucopolysaccharidosis type I Carrier, (MPS-1 Carrier) Count 3 X
Other Hemoglobinopathies Count 1 X
Pompe Disease, Carrier Count 3 X
Pompe Disease, Possible Late Onset (Possible LOPD) Count 1 X
Thyroid-binding globulin deficiency (TBG) Count 1 X
TOTAL 223
Last Updated: July 10, 2019