Resources for Healthcare Providers

Loading...

The Texas Department of State Health Services’ Newborn Screening (NBS) Program screens for 29 core conditions using blood spots. NBS will add screening and reporting on secondary conditions. View Fact Sheets for the 24 secondary conditions.

ACT Sheets

ACT Sheets or ACTion sheets are action plans for each disorder that provide recommended immediate next steps 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 Academia (2M3HBA), 3-Methylglutaconic Aciduria (3MGA) 
Isobutyrylglycinuria (IBG), Methylmalonic Acidemia with Homocystinuria (Cbl C,D), Malonic Acidemia (MAL) 

Endocrine Disorders

Core: Congenital Adrenal Hyperplasia (CAH), Congential Hypothyroidism (CH)

Hemoglobin Disorders or Hemoglobinopathies

Core: Sickle Cell Anemia (Hb SS) Hemoglobin S/Beta Zero Thalassemia (Hb S/βTh), Hemoglobin S/C Disease (Hb S/C)

Secondary: Various Hemoglobinopathies (Var Hb)  

Other Disorders

Core: Biotinidase Deficiency (BIOT), Cystic Fibrosis (CF)
Galactosemia (GALT), Severe Combined Immunodeficiency (SCID)

Secondary: T-cell related lymphocyte deficiencies

Resources

Newborn Screening Saves Lives! is a publication that discusses what newborn screening is, six things expectant parents want to know, and guidance on patient communication.

Critical Congenital Heart Disease (CCHD) Toolkit

Frequently Asked Questions

Financial Assistance

NBS Benefits Program - 2012 Manual, Eligibility Forms, Instructions and Billing
Insurers to Cover Newborn Screening Fee

DSHS Health Providers

DSHS Laboratory Health Care Providers Resource Page
Medical Consultants
Regional Social Workers

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

Videos and Webinars

Storage and Use of Dried Blood Spots in Newborn Screening (video)

Cystic Fibrosis (video) 

Newborn Screening and Genetics: Cystic Fibrosis
DSHS Grand Rounds Webinar, December 2009
Presentation by Dr. John Saito, Cook Children's Physician's Network 


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 persons with visual impairment.

Last updated May 20, 2015