NEWBORN SCREENING ACT SHEETS AND CONFIRMATORY ALGORITHMS

 

NEWBORN SCREENING CONDITION-ANALYTE TABLE

Condition Group

Condition

Analyte

Links

ENDOCRINE
DISORDERS

Primary congenital hypothyroidism

Elevated TSH

ACT Sheet

Algorithm

Low T4 +/-
Elevated TSH

ACT Sheet

Algorithm

Secondary congenital hypothyroidism

Low T4 +/-
Elevated TSH

Thyroxine binding globulin (TBG) deficiency

Low T4 +/-
Elevated TSH

Congenital adrenal hyperplasia (CAH)
(21-hydroxylase deficiency)

Elevated 17-OHP

ACT Sheet

Algorithm

 

HEMOGLOBIN
DISORDERS

Sickle cell anemia
(HbSS or HbSߺ Thalassemia)

Hemoglobin FS

ACT Sheet

Algorithm

Hemoglobin SC disease
(HbSC)

Hemoglobin FSC

ACT Sheet

Hemoglobin S/beta
Thalassemia (HbSß+)

Hemoglobin FSA

ACT Sheet

Sickle cell carrier (trait) (HbAS)

Hemoglobin FAS

ACT Sheet

Hemoglobin V
(variant)

Hemoglobin FAV

ACT Sheet

Algorithm

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

Hemoglobin FE

ACT Sheet

Beta Thalassemia Major

Hemoglobin F

ACT Sheet

Alpha Thalassemia (phenotype varies with % Barts Hb)

Hemoglobin FA +
Barts Hb

ACT Sheet

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

Hemoglobin FC

ACT Sheet

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

Hemoglobin FCA

ACT Sheet

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

Hemoglobin FAE

ACT Sheet

 

GENETIC
DISORDERS

Biotinidase deficiency

Biotinidase

ACT Sheet

Algorithm


Critical Congenital Heart Disease
  ACT Sheet    

Cystic Fibrosis

Immunoreactive trypsinogen (IRT) + IRT
or DNA

ACT Sheet

Algorithm

Hearing Loss

Hearing loss

ACT Sheet

Algorithm

 

GALACTOSEMIAS

Classical galactosemia

GALT

ACT Sheet

Algorithm

Elevated galactose +
deficient GALT

ACT Sheet

Algorithm

Galactokinase deficiency

Elevated galactose +/-
deficient GALT

Galactose epimerase deficiency

Elevated galactose +/-
deficient GALT

 

FATTY ACID
OXIDATION
DISORDERS

Carnitine uptake deficiency

C0

ACT Sheet

Algorithm

CPT 1 deficiency

C0; C0/C16+C18

ACT Sheet

Algorithm

CPT2
CACT

C16 and/or C18:1

ACT Sheet

Algorithm

Glutaric acidemia 2
Ethylmalonic encephalopathy

C4;C5

ACT Sheet

Algorithm

LCHAD
TFP

C16-OH +/-
C18:1-OH

ACT Sheet

Algorithm

MCAD

C8;C6,C10

ACT Sheet

Algorithm

M/SCHAD

C4-OH

ACT Sheet

Algorithm

C4-OH;C5OH unk. 

Algorithm

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

C4

ACT Sheet

Algorithm

VLCAD

C14:1 +/-

ACT Sheet

Algorithm

 

ORGANIC
ACIDEMIAS

Beta-ketothiolase deficiency
Biotinidase deficiency
Holocarboxylase deficiency
HMG-CoA lyase deficiency
2M3HBA
3MGA
3MCC

C5-OH

ACT Sheet

Algorithm

Glutaric acidemia 1

C5-DC

ACT Sheet

Algorithm

Isovaleric acidemia
Short/branched chain
acyl-CoA dehydrogenase deficiency

C5

ACT Sheet

Algorithm

Malonic acidemia

C3-DC

ACT Sheet

Algorithm

Methylmalonic acidemias
Propionic acidemia

C3

ACT Sheet

Algorithm

 

AMINO
ACIDEMIAS

Argininemia

Arginine

ACT Sheet

Algorithm

Argninosuccinic aciduria
Citrullinemia I
Citrullinemia II
Pyruvate carboxylase deficiency

Citrulline

ACT Sheet

Algorithm

Decreased Citrulline

Citrulline

ACT Sheet

In Development

Homocystinuria
Hypermethioninemia
GNMT
Adenosylhomocysteine hydrolase deficiency

Methionine

ACT Sheet

Algorithm

MSUD
Hydroxyprolinuria

Leucine

ACT Sheet

Algorithm

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

Phenylalanine

ACT Sheet

Algorithm

Tyrosinemia I
Tyrosinemia II
Tyrosinemia III

Tyrosine SUAC Normal

 ACT Sheet

Algorithm

Tyrosine Normal/
Elevated and
SUAC Elevated

Algorithm

 

IMMUNO-DEFICIENCY

DISORDERS

Severe Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia

ACT Sheet

In Development

 

LYSOSOMAL STORAGE

DISEASES

Fabry Disease

ACT Sheet

In Development

Gaucher Disease

ACT Sheet

In Development

Krabbe Disease

ACT Sheet

In Development

Niemann-Pick Disease

ACT Sheet

In Development

Pompe Disease

ACT Sheet

In Development

 


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