​​Recommended Uniform Screening Panel

​T​​he Recommended Uniform Screening Panel (RUSP) is a list of disorders recommended by the federal Secretary of the Department of Health and Human Services for states to screen as part of their state universal newborn screening programs. More information about the disorders and the RUSP can be found on the Health Resources and Services Administration (HRSA) website​​.

Please Note: due to biological variability of newborns and differences in detection rates for the various disorders in the newborn period, the California Newborn Screening Program will not identify all newborns with these conditions. While a positive screening result identifies newborns at an increased risk to justify a diagnostic work-up, a negative screening result do​​es not rule out the possibility of a disorder. 

Health care providers should remain watchful for any sign or symptoms of these disorders in their patients. A newborn screening result should not be considered diagnostic, and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable health care provider.​

Core Conditions

Core conditions are the conditions that newborn screening is specifically designed to identify. The following core conditions are screened for in California:

Organic Acid ​Disorders

• Propionic Acidemia
• Methylmalonic Acidemia ​(Methylmalonyl-CoA Mutase)
• Methylmalonic Acidemia (Cobalamin Disorders)
• Isovaleric Acidemia
• 3-Methylcrotonyl-CoA Carboxylase Deficiency
• 3-Hydroxy-3-Methylglutaric Aciduria​​
  
• Holocarboxylase Synthase Deficiency
• β-Ketothiolase Deficiency
• Glutaric Acidemia Type I​​
  

Fatty Acid Oxidation Disorders

• Carnitine Uptake Defect
• Medium-chain Acyl-CoA Dehydrogenase Deficiency
• Very Long-chain Acyl-CoA Dehydrogenase Deficiency
• Long-chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency
• Trifunctional Protein Deficiency

Amino Acid Disorders

• Argininosuccinic Aciduria​
• Citrullinemia Type I
• Maple Syrup Urine Disease
• Homocystinuria
• Classic Phenylketonuria​
  
• Tyrosinemia Type I
• Endocrine
• Disorders
• Primary Congenital Hypothyroidism
• Congenital Adrenal Hyperplasia

Hemoglobin Disorders

• S,S Disease (Sickle Cell Anemia)
• S, β-Thalassemia
• S,C Disease
  

Other Disorders

• Biotinidase Deficiency
  
• Cystic Fibrosis
  
• Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-Related Metabolic Syndrome (CRMS) can also be detected by newborn screening (infants with a high level of immunoreactive trypsinogen plus inconclusive CFTR functional and genetic testing).
  
• Classic Galactosemia
  
• Guanidinoacetate methyltransferase deficiency (GAMT)
  
• Glycogen Storage Disease Type II (Pompe)
  
• Mucopolysaccharidosis Type I
  
• Mucopolysaccharidosis Type II
  
• Severe Combined Immunodeficiencies
• X-linked Adrenoleukodystrophy​
  
• Spinal Muscular Atrophy​
  

Critical Congenital Heart Disease and Hearing Loss

​Point-of-care screening tests for Critical Congenital Heart Disease (CCHDScreening@dhcs.ca.gov​) and Hearing Loss​ are performed under the auspices of the California Department of Health Care Services.​

Secondary Conditions

​Secondary conditions are disorders that can be detected in the differential diagnosis of a core condition.​ A condition on the newborn screening panel is classified as a “secondary condition” if it is identified unintentionally when screening for one of the core conditions, or as a consequence of confirmatory testing for an out-of-range result of a core condition.​ The following secondary​​ conditions are screened for in California:​

Organic Acid Disorders

• 2-Methyl-3-Hydroxybutyric Aciduria
• 2-Methylbutyrylglycinuria
• 3-Methylglutaconic Aciduria
• Methylmalonic Acidemia with Homocystin
• Isobutyrylglycinuria
• Malonic Acidemia

Fatty Acid Oxidation Disorders

• Carnitine Acylcarnitine Translocase Deficiency
• Carnitine Palmitoyltransferase I Deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Medium/Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency
• Glutaric Acidemia Type II
• Short Chain Acyl-CoA Dehydrogenase Deficiency

Amino Acid Disorders

• Argininemia
• Biopterin Defect in Cofactor Biosynthesis
• Biopterin Defect in Cofactor Regeneration
• Citrullinemia Type II
• Benign Hyperphenylalaninemia
• Hypermethioninemia
• Tyrosinemia Type II
• Tyrosinemia Type III​
  

Hemoglobin Disorders

​For more information, please visit our ​​sickle cell​​​ and hemoglobin disorders​​ webpage.

Alpha Thalassemias​

• Alpha Thalassemia Major
• Hemoglobin H Disease​​

Beta Hemoglobin Variants

Bet​a Thalassemias

Hereditary Persistence of Fetal ​​Hemoglobin

Other Disorders

• T-Cell Related Lymphocyte Deficiencies​
  

​Additional Secondary Conditions​​​

T​​he following are additional secondary disorders that are screened for in California even though they are not on either RUSP list:

Organic Acid Disorders

Amino Acid Disorders

• Carbamoylphosphate Synthetase Deficiency
• Gyrate Atrophy of the Choroid and Retina
• Hyperornithinemia-Hyperammonemia Homocitrullinuria Syndrome
• Hyperprolinemia Type I
• Hyperprolinemia Type II​
• Ornithine Transcarbamylase Deficiency
• Remethylation Defects (MTHFR, MTR, MTRR, Cbl D v1, Cbl G Deficiencies)
• Tyrosinemia, Transient

Other Disorders