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ACMG ACT Sheets and Algorithms [Internet]. Bethesda (MD): American College of Medical Genetics and Genomics; 2001-.

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ACMG ACT Sheets and Algorithms [Internet].

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Newborn Screening ACT Sheets and Algorithms

NEWBORN SCREENING CONDITION-ANALYTE TABLE

Condition GroupConditionAnalyteLinks
AMINO ACIDEMIASArgininemiaArginine

ACT Sheet (PDF, 228K)

Algorithm (PDF, 181K)

Argninosuccinic aciduria
Citrullinemia I
Citrullinemia II
Pyruvate carboxylase deficiency
Citrulline

ACT Sheet (PDF, 230K)

Algorithm (PDF, 210K)

Decreased CitrullineCitrulline

ACT Sheet (PDF, 282K)

In development
Homocystinuria
Hypermethioninemia
GNMT
Adenosylhomocysteine hydrolase deficiency
Methionine

ACT Sheet (PDF, 247K)

Algorithm (PDF, 209K)

MSUD
Hydroxyprolinuria
Leucine

ACT Sheet (PDF, 318K)

Algorithm (PDF, 170K)

Phenylketonuria (PKU)
Biopterin cofactor biosynthesis defect
Biopterin cofactor regeneration defect
Phenylalanine

ACT Sheet (PDF, 226K)

Algorithm (PDF, 178K)

Tyrosinemia I
Tyrosinemia II
Tyrosinemia III
Tyrosine SUAC Normal

ACT Sheet (PDF, 230K)

Algorithm (PDF, 150K)

Tyrosine Normal/ Elevated and SUAC Elevated

Algorithm (PDF, 160K)

ENDOCRINE DISORDERSPrimary congenital hypothyroidismElevated TSH

ACT Sheet (PDF, 227K)

Algorithm (PDF, 247K)

Secondary congenital hypothyroidismLow T4 +/- Elevated TSH

ACT Sheet (PDF, 231K)

Algorithm (PDF, 213K)

Thyroxine binding globulin (TBG) deficiency
Congenital adrenal hyperplasia (CAH) (21-hydroxylase deficiency)Elevated 17-OHP

ACT Sheet (PDF, 279K)

Algorithm (PDF, 217K)

FATTY ACID OXIDATION DISORDERSCarnitine uptake deficiencyC0

ACT Sheet (PDF, 276K)

Algorithm (PDF, 166K)

CPT 1 deficiencyC0; C0/C16+C18

ACT Sheet (PDF, 272K)

Algorithm (PDF, 172K)

CPT2 CACTC16 and/or C18:1

ACT Sheet (PDF, 198K)

Algorithm (PDF, 158K)

Glutaric acidemia 2 Ethylmalonic encephalopathyC4;C5

ACT Sheet (PDF, 281K)

Algorithm (PDF, 190K)

LCHAD or TFPC16-OH +/- and C18:1-OH

ACT Sheet (PDF, 290K)

Algorithm (PDF, 169K)

MCADC8;C6,C10

ACT Sheet (PDF, 278K)

Algorithm (PDF, 165K)

M/SCHADC4-OH

ACT Sheet (PDF, 230K)

Algorithm (PDF, 171K)

C4-OH;C5OH unk.

Algorithm (PDF, 161K)

Short-chain acyl-CoA deficiency (SCAD)
Ethylmalonic encephalopathy
Isobutyryl-CoA dehydrogenase deficiency
C4

ACT Sheet (PDF, 278K)

Algorithm (PDF, 202K)

VLCADC14:1 +/-

ACT Sheet (PDF, 277K)

Algorithm (PDF, 164K)

GALACTOSEMIASPrimary or Secondary HypergalactosemiaIncrease Total Galactose with normal GALT

ACT Sheet (PDF, 275K)

Algorithm (PDF, 159K)

Classical GalactosemiaAbsent/Reduced GALT

ACT Sheet (PDF, 232K)

Algorithm (PDF, 198K)

GENETIC DISORDERSBiotinidase deficiencyBiotinidase

ACT Sheet (PDF, 287K)

Algorithm (PDF, 175K)

Critical Congenital Heart Disease (CCHD)

ACT Sheet (PDF, 881K)

Cystic FibrosisImmunoreactive trypsinogen (IRT) + IRT or DNA

ACT Sheet (PDF, 281K)

Algorithm (PDF, 185K)

Hearing Loss

ACT Sheet (PDF, 283K)

Algorithm (PDF, 184K)

HEMOGLOBIN DISORDERSSickle cell anemia (HbSS or HbSߺ Thalassemia)Hemoglobin FS

ACT Sheet (PDF, 331K)

Algorithm (PDF, 216K)

Hemoglobin SC disease (HbSC)Hemoglobin FSC

ACT Sheet (PDF, 319K)

Hemoglobin S/beta Thalassemia (HbSß+)Hemoglobin FSA

ACT Sheet (PDF, 335K)

Sickle cell carrier (trait) (HbAS)Hemoglobin FAS

ACT Sheet (PDF, 271K)

Hemoglobin V (variant)Hemoglobin FAV

ACT Sheet (PDF, 280K)

Algorithm (PDF, 208K)

Hemoglobin FE or Hemoglobin E/Beta Zero Thalassemia (Hb EE or Hb E/ߺ Disease)Hemoglobin FE

ACT Sheet (PDF, 347K)

Beta Thalassemia MajorHemoglobin F

ACT Sheet (PDF, 259K)

Alpha Thalassemia (phenotype varies with % Barts Hb)Hemoglobin FA + Barts Hb

ACT Sheet (PDF, 316K)

Hemoglobin CC Disease or Hemoglobin C/Beta Zero Thalassemia (HbC/ߺ Disease)Hemoglobin FC

ACT Sheet (PDF, 287K)

Hemoglobin C/Beta Plus Thalassemia (HbC/ß+ Disease)Hemoglobin FCA

ACT Sheet (PDF, 316K)

Hemoglobin E/Beta Plus Thalassemia (HbE/B+ Disease)Hemoglobin FAE

ACT Sheet (PDF, 306K)

IMMUNO-DEFICIENCY DISORDERSSevere Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia

ACT Sheet (PDF, 279K)

In Development
LYSOSOMAL STORAGE DISEASESFabry Disease

ACT Sheet (PDF, 287K)

In development
Gaucher Disease

ACT Sheet (PDF, 274K)

In development
Krabbe Disease

ACT Sheet (PDF, 277K)

In development
Niemann-Pick Disease

ACT Sheet (PDF, 233K)

In development
Pompe

ACT Sheet (PDF, 542K)

Algorithm (PDF, 408K)

MUSCULOSKELETAL DISEASEDMD Pathogenic VariantPathogenic Variants in DMD gene

ACT Sheet (PDF, 157K)

DMD Elevated Creatine Kinase Muscle IsoformElevated Creatine Kinase Muscle Isoform

ACT Sheet (PDF, 182K)

No Pathogenic Variant DMD GeneNo Pathogenic Variant in DMD gene

ACT Sheet (PDF, 180K)

ORGANIC ACIDEMIASBeta-ketothiolase deficiency
Biotinidase deficiency
Holocarboxylase deficiency
HMG-CoA lyase deficiency
2M3HBA
3MGA
3MCC
C5-OH

ACT Sheet (PDF, 336K)

Algorithm (PDF, 224K)

Glutaric acidemia 1C5-DC

ACT Sheet (PDF, 279K)

Algorithm (PDF, 178K)

Isovaleric acidemia
Short/branched chain acyl-CoA dehydrogenase deficiency
C5

ACT Sheet (PDF, 290K)

Algorithm (PDF, 194K)

Malonic acidemiaC3-DC

ACT Sheet (PDF, 277K)

Algorithm (PDF, 159K)

Methylmalonic acidemias
Propionic acidemia
C3

ACT Sheet (PDF, 223K)

Algorithm (PDF, 204K)

©2001- American College of Medical Genetics and Genomics. All rights reserved.
Bookshelf ID: NBK55827

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