Resources for Health Care Providers
ACT Sheets
ACT Sheets or ACTion sheets are action plans for each disorder that provide recommended immediate next steps for a health professional to follow when a newborn has an out-of-range test result.
Amino Acid Disorders
Core
Argininosuccinic Acidemia (ASA)
Citrullinemia (CIT)
Homocystinuria (HCY)
Maple Syrup Urine Disease (MSUD)
Phenylketonuria (PKU)
Tyrosinemia Type I (TYR I)
Secondary
Argininemia (ARG)
Benign Hyperphenylalaninemia (H-PHE)
Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
Citrullinemia, type II (CIT II)
Hypermethioninemia (MET)
Tyrosinemia, type II (TYR II)
Tyrosinemia, type III (TYR III)
Fatty Acid Oxidation Disorders
Core
Carnitine Uptake Defect (CUD)
Long-chain L-3-OH acyl-CoA Dehydrogenase Deficiency (LCHAD)
Medium-chain acyl-CoA dehydrogenase Deficiency (MCAD)
Trifunctional Protein Deficiency (TFP)
Very Long-chain acyl-CoA Dehydrogenase Deficiency (VLCAD)
Secondary
2,4 Dienoyl-CoA reductase deficiency (DE RED)
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency (HADH) (previously named Medium/Short Chain Acyl-CoA Dehydrogenase (M/SCHAD))
Carnitine Acylcarnitine Translocase Deficiency (CACT)
Carnitine Palmitoyl Transferase I Deficiency (CPT1)
Carnitine Palmitoyltransferase Type II Deficiency (CPTII)
Glutaric Academia, Type II (GA2)
Medium-chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
Organic Acid Disorders
Core
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
3-Hydroxy-3methylglutaric Aciduria (HMG)
Beta-Ketothiolase Deficiency (BKT)
Glutaric Acidemia Type 1 (GA1)
Isovaleric Acidemia (IVA)
Methylmalonic Acidemia (Cbl A,B)
Methylmalonic Acidemia (mutase deficiency form) (MUT)
Multiple Carboxylase Deficiency (MCD)
Propionic Acidemia (PROP)
Secondary
2 Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG)
2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
3-Methylglutaconic Aciduria (3MGA)
Isobutyrylglycinuria (IBG)
Methylmalonic Acidemia with Homocystinuria (Cbl C,D)
Malonic Acidemia (MAL)
Endocrine Disorders
Core
Congenital Adrenal Hyperplasia (CAH)
Congenital Hypothyroidism (CH)
Hemoglobin Disorders or Hemoglobinopathies
Core
Sickle Cell Anemia (Hb SS)
Hemoglobin S/Beta Zero Thalassemia (Hb S/ßTh)
[FSC] Hemoglobin S/C Disease (Hb S/C)
[FSA] Hemoglobin S/Beta+ Thalassemia (HbSß+Disease)
Secondary
Various Hemoglobinopathies (Var Hb)
F,A, Other (Probable Unidentified Hb Variant)
FC (HbCC Disease or HbC/Beta Zero Thalassemia) HbC/ß0 Disease
FCA (HbC/Beta Plus Thalassemia) HbC/ß+Disease
FD (HbDD Disease) Hemoglobin D Disease
FE (HbEE or HbE/Beta Zero Thalassemia) EE or Hb E/ß0 Disease
FEA (HbE/Beta Plus Thalassemia) HbE/ß+Disease
Beta Thalassemia Major (Hemoglobin F [Fetal] Only)
Other Disorders
Core
Biotinidase Deficiency (BIOT)
Cystic Fibrosis (CF)
Galactosemia (GALT)
Severe Combined Immunodeficiency (SCID)
Spinal Muscular Atrophy (SMA)
X-linked Adrenoleukodystrophy (X-ALD)
Secondary
T-cell related lymphocyte deficiencies
Other Resources
Financial Assistance
NBS Benefits Program - Contractor Manual, Eligibility Forms, Instructions and Billing
DSHS Health Providers
DSHS Laboratory Health Care Providers Resource Page
Medical Consultants
Training
Texas Health Steps Online Provider Education - program offers self-paced modules with free continuing education credits for primary care providers and other health professionals.
Websites
Baby's First Test - Facts, advice and support for parents and professionals
Save Babies Through Screening Foundation - Non-profit organization that advocates for comprehensive newborn screening.
Additional Disorder/NBS Information
- DSHS Use and Storage of Dried Blood Spot Cards
- Abbreviations and Alternate Names for the Additional NBS Disorders
- American Academy of Pediatrics (AAP) Fact Sheets Introduction (9/2006)
- American Academy of Pediatrics (AAP) Fact Sheets (9/2006)
- Cystic Fibrosis - Accredited Care Centers in TX
- Cystic Fibrosis - DNA Testing 60-Mutation Panel
- Things to Know about Cystic Fibrosis
- Genetics Home Reference - Your Guide to Understanding Genetic Conditions
- Information sheet - Hemoglobinopathies "F, A, Other" (12/2012)
- Information sheet - Alpha Thalassemia Trait (12/2012)
- Screening Critically Ill and Premature Infants - NBS protocols for infants in neonatal intensive care units.
External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may not be accessible to people with disabilities.