Endocrine Disorders
Primary congenital hypothyroidism
Analyte: Elevated TSH; Low T4 +/-Elevated TSH
ACT Sheet TSH PDF
ACT Sheet T4 PDF
Algorithm TSH PDF
Algorithm T4 PDF
Secondary congenital hypothyroidism
Analyte: Low T4 +/-Elevated TSH
ACT Sheet PDF
Algorithm PDF
Thyroxine binding globulin (TBG) deficiency
Analyte: Low T4 +/-Elevated TSH
ACT Sheet PDF
Algorithm PDF
Congenital adrenal hyperplasia (CAH) (21-hydroxylase deficiency)
Analyte: Elevated 17-OHP
Act Sheet PDF
Algorithm PDF
Hemoglobin Disorders
Sickle cell anemia (HbSS or HbSߺ Thalassemia)
Analyte: Hemoglobin FS
ACT Sheet PDF
Algorithm PDF
Hemoglobin SC disease (HbSC)
Analyte: Hemoglobin FSC
ACT Sheet PDF
Algorithm PDF
Hemoglobin S/beta Thalassemia (HbSß+)
Analyte: Hemoglobin FSA
ACT Sheet PDF
Algorithm PDF
Sickle cell carrier (trait) (HbAS)
Analyte: Hemoglobin FAS
ACT Sheet PDF
Algorithm PDF
Hemoglobin V (variant)
Analyte: Hemoglobin FAV
ACT Sheet PDF
Algorithm PDF
Hemoglobin FE or Hemoglobin E/Beta Zero Thalassemia (Hb EE or Hb E/ߺ Disease)
Analyte: Hemoglobin FE
ACT Sheet PDF
Algorithm PDF
Beta Thalassemia Major
Analyte: Hemoglobin F
ACT Sheet PDF
Algorithm PDF
Alpha Thalassemia (phenotype varies with % Barts Hb)
Analyte: Hemoglobin FA + Barts Hb
ACT Sheet PDF
Algorithm PDF
Hemoglobin CC Disease or Hemoglobin C/Beta Zero Thalassemia (HbC/ߺ Disease)
Analyte: Hemoglobin FC
ACT Sheet PDF
Algorithm PDF
Hemoglobin C/Beta Plus Thalassemia (HbC/ß+ Disease)
Analyte: Hemoglobin FCA
ACT Sheet PDF
Algorithm PDF
Hemoglobin E/Beta Plus Thalassemia (HbE/B+ Disease)
Analyte: Hemoglobin FAE
ACT Sheet PDF
Algorithm PDF
Genetic Disorders
Biotinidase deficiency
Analyte: Biotinidase
ACT Sheet PDF
Algorithm PDF
Cystic Fibrosis
Analyte: Immunoreactive trypsinogen (IRT) + IRT or DNA
ACT Sheet PDF
Algorithm PDF
Hearing Loss
Analyte: Hearing loss
ACT Sheet PDF
Algorithm PDF
Galactosemias
Classical galactosemia
Analytes: GALT; Elevated galactose + deficient GALT
ACT Sheet Galactose + GALT PDF
ACT Sheet Galactose PDF
Algorithm GALT PDF
Algorithm Hypergalactosemia PDF
Galactokinase deficiency
Analyte: Elevated galactose +/- deficient GALT
ACT Sheet PDF
Algorithm PDF
Galactose epimerase deficiency
Analyte: Elevated galactose +/- deficient GALT
ACT Sheet PDF
Algorithm PDF
Fatty Acid Oxidation Disorders
Carnitine uptake deficiency
Analyte: C0
ACT Sheet PDF
Algorithm PDF
CPT 1 deficiency
Analyte: C0; C0/C16+C18
ACT Sheet PDF
Algorithm PDF
CPT2 / CACT
Analyte: C16 and/or C18:1
ACT Sheet PDF
Algorithm PDF
Glutaric acidemia 2 / Ethylmalonic encephalopathy
Analyte: C4;C5
ACT Sheet PDF
Algorithm PDF
LCHAD / TFP
Analyte: C16-OH +/- C18:1-OH
ACT Sheet PDF
Algorithm PDF
MCAD
Analyte: C8;C6,C10
ACT Sheet PDF
Algorithm PDF
M/SCHAD
Analyte: C4-OH
ACT Sheet PDF
Algorithm PDF
Analyte: C4-OH;C5OH unk.
ACT Sheet PDF
Algorithm PDF
Short-chain acyl-CoA deficiency (SCAD)
Ethylmalonic encephalopathy
Isobutyryl-CoA dehydrogenase deficiency
Analyte: C4
ACT Sheet PDF
Algorithm PDF
VLCAD
Analyte: C14:1 +/-
ACT Sheet PDF
Algorithm PDF
Organic Acidemias
Beta-ketothiolase deficiency
Biotinidase deficiency
Holocarboxylase deficiency
HMG-CoA lyase deficiency
2M3HBA
3MGA
3MCC
Analyte: C5-OH
ACT Sheet PDF
Algorithm PDF
Glutaric acidemia 1
Analyte: C5-DC
ACT Sheet PDF
Algorithm PDF
Isovaleric acidemia
Short/branched chain acyl-CoA dehydrogenase deficiency
Analyte: C5
ACT Sheet PDF
Algorithm PDF
Malonic acidemia
Analyte: C3-DC
ACT Sheet PDF
Algorithm PDF
Methylmalonic acidemias
Propionic acidemia
Analyte: C3
ACT Sheet PDF
Algorithm PDF
Amino Acidemias
Argininemia
Analyte: Arginine
ACT Sheet PDF
Algorithm PDF
Argninosuccinic aciduria
Citrullinemia I
Citrullinemia II
Pyruvate carboxylase deficiency
Analyte: Citrulline
ACT Sheet PDF
Algorithm PDF
Homocystinuria
Hypermethioninemia
GNMT
Adenosylhomocysteine hydrolase deficiency
Analyte: Methionine
ACT Sheet PDF
Algorithm PDF
MSUD
Hydroxyprolinuria
Analyte: Leucine
ACT Sheet PDF
Algorithm PDF
Phenylketonuria (PKU)
Biopterin cofactor biosynthesis defect
Biopterin cofactor regeneration defect
Analyte: Phenylalanine
ACT Sheet PDF
Algorithm PDF
Tyrosinemia I
Tyrosinemia II
Tyrosinemia III
Analyte: Tyrosine SUAC Normal
ACT Sheet PDF
Algorithm PDF
Analyte: Tyrosine Normal/Elevated and SUAC Elevated
ACT Sheet PDF
Algorithm PDF
Immunodeficiency Disorders
Severe Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia
ACT Sheet PDF
Lysosomal Storage Disorders
Fabry Disease
ACT Sheet PDF
Gaucher Disease
ACT Sheet PDF
Krabbe Disease
ACT Sheet PDF
Niemann-Pick Disease
ACT Sheet PDF
Pompe Disease
ACT Sheet PDF
