The ACMG ACT Sheets and their accompanying algorithms are a great resources for health care providers looking for information on genetic conditions (identified through newborn screening and beyond) to help inform clinical decision making. Developed by the American College of Medical Genetics and Genomics and the National Coordinating Center for the Regional Genetics Networks (NCC), ACMG ACT Sheets are available on the ACMG websites. Given the rarity of many genetic conditions—ACT Sheets and algorithms are excellent refreshers on the conditions, diagnoses, and next steps for patients. 

For each marker(s), there is 1) an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2) an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant.

The first page of the ACT sheets includes information are developed by the ACT Sheet Workgroup. Each ACT Sheet also include links to informational resources to allow the health professional to obtain additional information, if needed. The second page of the ACT sheet includes links to web sites that allow one to identify sub-specialists for consultation and referral for the condition(s) described in the ACT Sheet.
Newborn Screening ACT Sheets and Algorithms
Endocrine Disorders
Condition Analyte ACT Sheet Algorithm
Primary congenital hypothyroidism Elevated TSH PDF PDF
Secondary congenital hypothyroidism Low T4 +/- Elevated TSH PDF PDF
Thyroxine binding globulin (TBG) deficiency Low T4 +/-Elevated TSH PDF PDF
Congenital adrenal hyperplasia (CAH)(21-hydroxylase deficiency) Elevated 17-OHP PDF PDF
Hemoglobin Disorders
Condition Analyte ACT Sheet Algorithm
Sickle cell anemia (HbSS or HbSߺ Thalassemia) Hemoglobin FS PDF PDF 
Hemoglobin SC disease (HbSC) Hemoglobin FSC PDF PDF
Hemoglobin S/beta Thalassemia (HbSß+) Hemoglobin FSA PDF PDF
Sickle cell carrier (trait) (HbAS) Hemoglobin FAS PDF  PDF
Hemoglobin V (variant) Hemoglobin FAV PDF PDF 
Hemoglobin FE or Hemoglobin E/Beta Zero Thalassemia (Hb EE or Hb E/ߺ Disease) Hemoglobin FE PDF  PDF 
Beta Thalassemia Major Hemoglobin F PDF PDF 
Alpha Thalassemia (phenotype varies with % Barts Hb) Hemoglobin FA +Barts Hb PDF PDF 
Hemoglobin CC Disease or Hemoglobin C/Beta Zero Thalassemia (HbC/ߺ Disease) Hemoglobin FC PDF PDF 
Hemoglobin C/Beta Plus Thalassemia (HbC/ß+ Disease) Hemoglobin FCA PDF PDF 
Hemoglobin E/Beta Plus Thalassemia (HbE/B+ Disease) Hemoglobin FAE PDF PDF 
Genetic Disorders
Condition Analyte ACT Sheet Algorithm
Biotinidase deficiency Biotinidase PDF PDF
Critical Congenital Heart Disease(HbSC) PDF
Cystic Fibrosis Immunoreactive trypsinogen (IRT) + IRT or DNA PDF PDF
Hearing Loss PDF PDF 
Fatty Acid Oxidation Disorders
Condition Analyte ACT Sheet Algorithm
Carnitine uptake deficiency C0 PDF PDF
CPT 1 deficiency C0; C0/C16+C18 PDF PDF
CPT2 or CACT C16 and/or C18:1 PDF PDF
Glutaric acidemia 2 Ethylmalonic encephalopathy C4;C5 PDF PDF
LCHAD or TFP C16-OH +/- and C18:1-OH PDF PDF
MCAD C8;C6,C10 PDF  PDF
M/SCHAD C4-OH PDF PDF
M/SCHAD C4-OH;C5OH unk. PDF PDF
Short-chain acyl-CoA deficiency (SCAD) Ethylmalonic encephalopathy Isobutyryl-CoA dehydrogenase deficiency C4 PDF PDF
VLCAD C14:1 +/- PDF PDF
Organic Acidemias
Condition Analyte ACT Sheet Algorithm
Beta-ketothiolase deficiency; Biotinidase deficiency; Holocarboxylase deficiency; HMG-CoA lyase deficiency; 2M3HBA; 3MGA;3MCC C5-OH PDF PDF
Glutaric acidemia 1 C5-DC PDF PDF
Isovaleric acidemia; Short/branched chain acyl-CoA dehydrogenase deficiency C5 PDF PDF
Malonic acidemia C3-DC PDF  PDF 
Methylmalonic acidemias; Propionic acidemia C3 PDF  PDF
Amino Acidemias
Condition Analyte ACT Sheet Algorithm
Argininemia Arginine PDF PDF
Argninosuccinic aciduria; Citrullinemia I; Citrullinemia II; Pyruvate carboxylase deficiency Citrulline PDF  PDF
Decreased Citrulline Citrulline PDF In development
Homocystinuria; Hypermethioninemia; GNMT; Adenosylhomocysteine hydrolase deficiency Methionine PDF PDF
MSUD; Hydroxyprolinuria Leucine PDF PDF
Phenylketonuria (PKU); Biopterin cofactor biosynthesis defect; Biopterin cofactor regeneration defect Phenylalanine PDF  PDF
Tyrosinemia I; Tyrosinemia II; Tyrosinemia III Tyrosine SUAC Normal PDF  PDF
Tyrosinemia I; Tyrosinemia II; Tyrosinemia III Tyrosine Normal/Elevated and SUAC Elevated PDF  PDF
Immunodeficiency Disorders
Condition Analyte ACT Sheet Algorithm
Severe Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia PDF  In Development
Lysosomal Storage Diseases
Condition Analyte ACT Sheet Algorithm
Fabry Disease PDF In Development
Gaucher Disease PDF In Development
Krabbe Disease PDF In Development
Niemann-Pick Disease PDF In Development
Pompe PDF PDF
Carrier ACT Sheets and Algorithms

Condition Analyte ACT Sheet
Cystic Fibrosis CF Mutations except R117H PDF
Cystic Fibrosis CF R117H PDF 
Cystic Fibrosis No Mutations Detected by Carrier Screening PDF 
Ashkenazi Jewish Genetic Disorders - PDF 
Sickle Cell Carrier/Trait - PDF 
Spinal Muscular Atrophy - PDF
Diagnostic Test ACT Sheets

Condition  ACT Sheet
Muscular Dystrophy  PDF 
Fragile X Syndrome  PDF 
Family History ACT Sheets

Condition  ACT Sheet
Colon Cancer  PDF  
Transition ACT Sheets
Endocrine Disorders
Condition ACT Sheet
Congenital hypothyroidism PDF 
Congenital Adrenal Hyperplasia (CAH) PDF  
Hemoglobin Disorders
Condition ACT Sheet
Sickle Cell Disease PDF
Urea Cycle Disorders
Condition ACT Sheet
Arginase Deficiency PDF
Argininosuccinic Acidemia PDF
Citrullinemia I PDF
Citrullinemia II PDF
CPS I Deficiency PDF
NAGS Deficiency PDF 
OTC Deficiency PDF
Amino Acidemias
Condition ACT Sheet
Homocystinuria PDF
Phenylketonuria PDF
Galactosemias
Condition ACT Sheet
GALT Deficiency, Classical Galactosemia PDF


Disclaimer: The ACT sheets and algorithms are designed primarily as educational resources for physicians to help them provide quality medical services, and adherence to them does not necessarily ensure a successful medical outcome. The ACT sheets and algorithms should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these ACT sheets and algorithms.

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Authors


 
ACMG Newborn Screening Work Group Harvey L. Levy, MD (Chair) Children’s Hospital Boston Michael S. Watson, PhD, FACMG (Project Director) American College of Medical Genetics and Genomics
Endocrinopathies Stephen LaFranchi, MD Oregon Health and Sciences University

 

Phyllis Speiser, MD Schneider Children’s Hospital, New York

 

Kelly Leight, JD CARES Foundation, Inc.
Hemoglobinopathies James R. Eckman, MD Emory University School of Medicine Peter A. Lane, MD Emory University School of Medicine Carolyn Hoppe, MD Children’s Hospital Oakland
Genetic Conditions Garry Cutting, MD Johns Hopkins University School of Medicine Cynthia C. Morton, PhD Brigham and Women’s Hospital Boston Richard Smith, MD University of Iowa School of Medicine
Metabolic Disorders Gerard Berry, MD Jefferson Medical College Stephen Goodman, MD University of Colorado Health Science Center Deborah Marsden, MD Children’s Hospital Boston Dietrich Matern, MD Mayo Clinic College of Medicine William Nyhan, MD University of California, San Diego
Primary Care Providers Danielle Laraque, MD, FAAP Mount Sinai School of Medicine
Robert Ostrander, MD, FAAP
Valley View Family Practice
Barbara Yawn, MD, FAAFP Olmstead Medical Center
Newborn Screening Programs Julie Miller, MS Nebraska Department of Health and Human Services Kenneth Pass, PhD New York State Dept. of Health Bradford Therrell, PhD National Newborn Screening and Genetics Resource Center
MCHB/HRSA Marie Y. Mann, MD, MPH Genetic Services Branch Michele Lloyd-Puryear, MD, PhD Genetic Services Branch