NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
ACMG ACT Sheets and Algorithms [Internet]. Bethesda (MD): American College of Medical Genetics and Genomics; 2001-.
NEWBORN SCREENING CONDITION-ANALYTE TABLE
| Condition Group | Condition | Analyte | Links | |
|---|---|---|---|---|
| AMINO ACIDEMIAS | Argininemia | Arginine | ACT Sheet (2022) | Algorithm (2022) |
| Argninosuccinic aciduria Citrullinemia I Citrullinemia II Pyruvate carboxylase deficiency TIME CRITICAL* | Citrulline | ACT Sheet (2022) | Algorithm (2022) | |
| Decreased
Citrulline TIME CRITICAL* | Citrulline | ACT Sheet (2022) | Algorithm (2022) | |
| Guanidinoacetate Methyltransferase (GAMT) Deficiency | Guanidinoacetate | ACT Sheet (2022) | Algorithm (2022) | |
| Homocystinuria Hypermethioninemia GNMT Adenosylhomocysteine hydrolase deficiency | Methionine | ACT Sheet (2022) | Algorithm (2022) | |
| MSUD Hydroxyprolinuria TIME CRITICAL* | Leucine | ACT Sheet (2022) | Algorithm (2022) | |
| Phenylketonuria (PKU) Biopterin cofactor biosynthesis defect Biopterin cofactor regeneration defect | Phenylalanine | ACT Sheet (2022) | Algorithm (2022) | |
| Tyrosinemia I Tyrosinemia II Tyrosinemia III | Tyrosine SUAC Normal | ACT Sheet (2022) | Algorithm (2022) | |
| Tyrosine Normal/ Elevated and SUAC Elevated | Algorithm (2022) | |||
| ENDOCRINE DISORDERS | Primary congenital hypothyroidism | Elevated TSH | ACT Sheet (2024) | Low T4 and Elevated
TSH Algorithm
(2024) Low T4 and Abnormal TSH Algorithm (2024) |
| Congenital central hypothyroidism | Low T4 +/- Abnormal TSH | ACT Sheet (2024) | Low T4 and Abnormal TSH Algorithm (2024) | |
| Congenital
adrenal hyperplasia (CAH) (21-hydroxylase deficiency) TIME CRITICAL* | Elevated 17-OHP | ACT Sheet (2024) | Algorithm (2024) | |
| FATTY ACID OXIDATION DISORDERS | Carnitine uptake deficiency | C0 | ACT Sheet (2022) | Algorithm (2022) |
| CPT 1
deficiency TIME CRITICAL* | C0; C0/C16+C18 | ACT Sheet (2022) | Algorithm (2022) | |
| CPT2
CACT TIME CRITICAL* | C16 and/or C18:1 | ACT Sheet (2022) | Algorithm (2022) | |
| Glutaric
acidemia 2 Ethylmalonic encephalopathy TIME CRITICAL* | C4;C5 | ACT Sheet (2022) | Algorithm (2022) | |
| LCHAD or
TFP TIME CRITICAL* | C16-OH +/- and C18:1-OH | ACT Sheet (2022) | Algorithm (2022) | |
| MCAD TIME CRITICAL* | C8;C6,C10 | ACT Sheet (2022) | Algorithm (2022) | |
| Short
Chain Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency TIME CRITICAL* | C4-OH | ACT Sheet (2022) | Algorithm (2022) | |
| Short-chain acyl-CoA deficiency (SCAD) Ethylmalonic encephalopathy Isobutyryl-CoA dehydrogenase deficiency | C4 | ACT Sheet (2022) | Algorithm (2022) | |
| VLCAD TIME CRITICAL* | C14:1 +/- | ACT Sheet (2022) | Algorithm (2022) | |
| GALACTOSEMIAS | Primary or Secondary Hypergalactosemia | Increase Total Galactose with normal GALT | ACT Sheet (2022) | Algorithm (2022) |
| Classical
Galactosemia TIME CRITICAL* | Absent/Reduced GALT | ACT Sheet (2022) | Algorithm (2022) | |
| GENETIC DISORDERS | Biotinidase deficiency | Biotinidase | ACT Sheet (2022) | Algorithm (2022) |
| Critical
Congenital Heart Disease (CCHD) TIME CRITICAL* | ACT Sheet (2013) | |||
| Cystic Fibrosis Elevated IRT + 0 Variants | Elevated Immunoreactive trypsinogen (IRT) + 0 Variants | ACT Sheet (2024) | Algorithm (2024) | |
| Cystic Fibrosis Elevated IRT + 1 Variant | Elevated Immunoreactive trypsinogen (IRT) + 1 Variant | ACT Sheet (2024) | Algorithm (2024) | |
| Cystic Fibrosis Elevated IRT + 2 Variants | Elevated Immunoreactive trypsinogen (IRT) + 2 Variants | ACT Sheet (2024) | Algorithm (2024) | |
| Congenital Hearing Loss | ACT Sheet (2024) | Algorithm (2024) | ||
| X-Linked Adrenoleukodystrophy (X-ALD) | Elevated lysophosphatidylcholines | ACT Sheet (2020) | In development | |
| HEMOGLOBIN DISORDERS | Sickle cell anemia (HbSS or HbSߺ Thalassemia) | Hemoglobin FS | ACT Sheet (2023) | Algorithm (2023) |
| Hemoglobin SC disease (HbSC) | Hemoglobin FSC | ACT Sheet (2023) | Algorithm (2023) | |
| Hemoglobin S/beta Thalassemia (HbSß+) | Hemoglobin FSA | ACT Sheet (2023) | Algorithm (2023) | |
| Sickle cell carrier (trait) (HbAS) | Hemoglobin FAS | ACT Sheet (2023) | Algorithm (2023) | |
| Hemoglobin V (variant) | Hemoglobin FAV | ACT Sheet (2023) | Algorithm (2023) | |
| Hemoglobin FE or Hemoglobin E/Beta Zero Thalassemia (Hb EE or Hb E/ߺ Disease) | Hemoglobin FE | ACT Sheet (2023) | Algorithm (2023) | |
| Beta Thalassemia Major and Intermedia | Hemoglobin F | ACT Sheet (2023) | Algorithm (2023) | |
| Alpha (α) Thalassemia | Hemoglobin FA + Unquantified Barts Hb | ACT Sheet (2023) | Algorithm (2023) | |
| Alpha (α) Thalassemia: Silent Carrier and Alpha Thalassemia Trait | Hemoglobin FA + Low/Moderate Barts Hb | ACT Sheet (2023) | Algorithm (2023) | |
| Alpha (α) Thalassemia: Hb H Disease | Hemoglobin FA + High Barts Hb | ACT Sheet (2023) | Algorithm (2023) | |
| Hemoglobin CC Disease or Hemoglobin C/Beta Zero Thalassemia (HbC/ߺ Disease) | Hemoglobin FC | ACT Sheet (2023) | Algorithm (2023) | |
| Hemoglobin C/Beta Plus Thalassemia (HbC/ß+ Disease) | Hemoglobin FCA | ACT Sheet (2023) | ||
| Hemoglobin E/Beta Plus Thalassemia (HbE/B+ Disease) | Hemoglobin FEA | ACT Sheet (2023) | Algorithm (2023) | |
| IMMUNO-DEFICIENCY DISORDERS | Severe Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia | ACT Sheet (2012) | In Development | |
| LYSOSOMAL STORAGE DISEASES | Fabry Disease | ACT Sheet (2022) | Algorithm (2022) | |
| Gaucher Disease | ACT Sheet (2022) | Algorithm (2022) | ||
| Krabbe
Disease (Infantile Form) TIME CRITICAL* | ACT Sheet (2022) | Algorithm (2022) | ||
| Krabbe Disease (Late-Onset Form) | ACT Sheet (2022) | |||
| Mucopolysaccharidosis Type 1 (MPS I) | ACT Sheet (2023) | Algorithm 2023 | ||
| Mucopolysaccharidosis Type II | ACT Sheet (2022) | Algorithm (2022) | ||
| Acid Sphingomyelinase Deficiency (ASMD) (Formerly Niemann-Pick Disease) | ACT Sheet (2022) | Algorithm (2022) | ||
| Pompe TIME CRITICAL* | ACT Sheet (2022) | Algorithm (2022) | ||
| MUSCULOSKELETAL DISEASE | DMD Pathogenic Variant | Pathogenic Variants in DMD gene | ACT Sheet (2019) | |
| DMD Elevated Creatine Kinase Muscle Isoform | Elevated Creatine Kinase Muscle Isoform | ACT Sheet (2019) | Algorithm (2022) | |
| No Pathogenic Variant DMD Gene | No Pathogenic Variant in DMD gene | ACT Sheet (2019) | ||
| Spinal
Muscular Atrophy TIME CRITICAL* | Exon 7 Deletion (Pathogenic Variant in SMN1 gene) | ACT Sheet (2020) | ||
| ORGANIC ACIDEMIAS | Beta-ketothiolase
deficiency Biotinidase deficiency Holocarboxylase deficiency HMG-CoA lyase deficiency 2M3HBA 3MGA 3MCC TIME CRITICAL* | C5-OH | ACT Sheet (2022) | Algorithm (2022) |
| Glutaric
acidemia 1 TIME CRITICAL* | C5-DC | ACT Sheet (2022) | Algorithm (2022) | |
| Isovaleric
acidemia Short/branched chain acyl-CoA dehydrogenase deficiency TIME CRITICAL* | C5 | ACT Sheet (2022) | Algorithm (2022) | |
| Malonic
acidemia TIME CRITICAL* | C3-DC | ACT Sheet (2022) | Algorithm (2022) | |
| Methylmalonic acidemias Propionic acidemia TIME CRITICAL* | C3 | ACT Sheet (2022) | Algorithm (2022) | |
- *
"Time Critical" is a condition in which acute symptoms or potentially irreversible damage could develop in the first week of life, and for which early recognition and treatment can reduce risk of morbidity and mortality. Adapted from the Society of Inherited Metabolic Disorders.
- Newborn Screening ACT Sheets and Algorithms - ACMG ACT Sheets and AlgorithmsNewborn Screening ACT Sheets and Algorithms - ACMG ACT Sheets and Algorithms
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