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
Gene Review LINK

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

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