States Puerto Rico
Puerto Rico currently screens for 50 conditions
The Puerto Rico Program
Each state runs its program differently, for more detailed information please visit their website here.
Puerto Rico does not have an English brochure available. You can find more specific information at their website.
What Conditions are Screened For in Puerto Rico?
Amino Acid Disorders
Benign Hyperphenylalaninemia (H-PHE)
Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
Citrullinemia, Type I (CIT)
Citrullinemia, Type II (CIT II)
Classic Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Tyrosinemia, Type I (TYR I)
Tyrosinemia, Type II (TYR II)
Fatty Acid Oxidation Disorders
Organic Acid Conditions
About Newborn Screening in Puerto Rico
The Puerto Rico Newborn Screening Program was funded in 1987, under the Law 84 of the Puerto Rican Government by Dr. Pedro J. Santiago-Borrero. Since then, this Program has been serving over 99% of the newborns on the Island offering quality, timely, and affordable laboratory screening with clinical follow-up to prevent the detrimental effects of certain disorders. Currently, we screen for more than 40 conditions recommended by the ACMG, and the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) ((HRSA) 2006). Our laboratories have the following certifications that guarantee the quality of our service: Clinical Laboratory Improvement Amendments (CLIA), Joint Commission and the Department of Health from the Government of Puerto Rico and. In addition, our laboratories participate in the CDC’s Quality Assurance Program to validate the results.
How is Newborn Screening Paid for in Puerto Rico?
The newborn screening panel cost is prorated to every hospital for each sample submitted to our program for analysis. Each hospital is responsible for charging the patient for the newborn screening panel. The current fee is $105.00.
Policies and Resources
All newborns in Puerto Rico have to be tested for every condition included in the Newborn Screening Panel as mandated by the law 84 from 1987 and law 129 from 2015 of the Puerto Rico Government.
Support for families:
For those who screen positive, we offer coordination of confirmative testing and clinical evaluation by subspecialists in the following areas: genetics, hematology, endocrinology, pulmonology, and immunology. We also offer comprehensive care including: genetic counseling and coordination of nutritional assessment and social services.