ACT & Info Sheets for
The Kansas Newborn Screening Program has modified the following items which are included in the American College of Medical Genetics and Genomics (ACMG) Intermediate Management Guide:
- ACTion (ACT) sheets that describe 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.
- Information sheets provide an overview of information on the condition, including but not limited to clinical symptoms, incidence rate, treatments, screening methodology, and communicating the results to the parents.
Provider Action Sheets
| Disorder Type | Conditions |
| Hemoglobinopathies | Sickle cell anemia (HbSS or HbSߺ Thalassemia) |
| Hemoglobin SC disease (HbSC)
Algorithm | ACT Sheet | Info Sheet |
|
| Hemoglobin S/beta Thalassemia (HbSß+)
Algorithm | ACT Sheet | Info Sheet |
|
| Sickle cell carrier (trait) (HbAS)
Algorithm | ACT Sheet | Info Sheet |
|
| Amino Acid Disorders | Phenylketonuria (PKU) |
| Maple Syrup Urine Disease (MSUD) | |
| Homocystinuria (HCY) | |
| Tyrosinemia (TYR) | |
| Argininosuccinic Aciduria (ASA) | |
| Citrullinemia, Type 1 (CIT)
Algorithm | ACT Sheet | Info Sheet |
|
| Fatty Acid Disorders | Medium-Chain Acyl-Coa Dehydrogenase Deficiency (MCAD) |
| Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) | |
| Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | |
| Trifunctional Protein Deficiency (TFP)
Algorithm | ACT Sheet | Info Sheet |
|
| Carnitine Uptake Defect (CUD) | |
| Organic Acid Disorders | Isovaleric Acidemia (IVA) |
| Glutaric Acidemia, Type 1 (GA-I) | |
| 3-Hydroxy-3-Methylglutaric Aciduria (HMG) | |
| Holocarboxyalse Synthetase Deficiency (MCD)
Algorithm | ACT Sheet | Info Sheet |
|
| Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT) | |
| Methylmalonic Acidemia (Cobalamin Disorders)
(Cbl A, B) Algorithm | ACT Sheet | Info Sheet |
|
| 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
Algorithm | ACT Sheet | Info Sheet |
|
| Propionic Acidemia (PROP)
Algorithm | ACT Sheet | Info Sheet |
|
| Beta-Ketothiolase Deficiency (BKT)
Algorithm | ACT Sheet | Info Sheet |
|
| Other Disorders | Congenital Hypothyroidism (CH) |
| Biotinidase Deficiency (BIO) | |
| Congenital Adrenal Hyperplasia (CAH) | |
| Galactosemia (GALT) | |
| Cystic Fibrosis (CF) | |
| X-Linked Adrenoleukodystrophy (X-ALD) | |
| Severe Combined Immune Deficiency (SCID) | |
| Spinal Muscular Atrophy (SMA) | |
| Critical Congenital Heart Disease (CCHD)
Algorithm | ACT Sheet | Info Sheet |
Provider Action Sheets
Disorder Type
Conditions
Hemoglobinopathies
Sickle Cell Anemia (HbSS or HbSߺ Thalassemia)
Hemoglobin SC Disease (HbSC)
Hemoglobin S/beta Thalassemia (HbSß+)
Sickle Cell Carrier (Trait) (HbAS)
Amino Acid Disorders
Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Homocystinuria (HCY)
Tyrosinemia (TYR)
Argininosuccinic Aciduria (ASA)
Citrullinemia, Type I (CIT)
Fatty Acid Disorders
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
Trifunctional Protein Deficiency (TFP)
Carnitine Uptake Defect (CUD)
Organic Acid Disorders
Isovaleric Acidemia (IVA)
ACT Sheet | Info Sheet
Glutaric Acidemia, Type 1 (GA-I)
ACT Sheet | Info Sheet
3-Hydroxy-3-Methylglutaric Aciduria (HMG)
ACT Sheet | Info Sheet
Holocarboxyalse Synthetase Deficiency (MCD)
ACT Sheet | Info Sheet
Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT)
ACT Sheet | Info Sheet
Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A, B)
ACT Sheet | Info Sheet
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
ACT Sheet | Info Sheet
Propionic Acidemia (PROP)
ACT Sheet | Info Sheet
Beta-Ketothiolase Deficiency (BKT)
ACT Sheet | Info Sheet
Lysosomal Disorders
Mucopolysaccharidosis Type-I (MPS I)
Mucopolysaccharidosis Type-II (MPS II)
Pompe (POMPE)
Other Disorders
Congenital Hypothyroidism (CH)
ACT Sheet | Info Sheet
Biotinidase Deficiency (BIO)
ACT Sheet | Info Sheet
Congenital Adrenal Hyperplasia (CAH)
Galactosemia (GALT)
ACT Sheet | Info Sheet
Cystic Fibrosis (CF)
ACT Sheet | Info Sheet
X-Linked Adrenoleukodystrophy (X-ALD)
ACT Sheet | Info Sheet
Severe Combined Immune Deficiency (SCID)
ACT Sheet | Info Sheet
Spinal Muscular Atrophy (SMA)
ACT Sheet | Info Sheet
Critical Congenital Heart Disease (CCHD)
ACT Sheet | Info Sheet