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Here you will find a list of all the conditions a newborn baby may receive screening for shortly after birth, as a part of a state’s newborn screening program. Remember, not all states screen for the same conditions. However, you will notice that most states at least screen for the conditions included in the "Recommended Uniform Screening Panel." To learn more about how newborn screening varies by state, visit the Conditions Screened by State section. To search for a condition, you can begin typing the name of that condition in the Quick Find box above, or see a complete list of conditions at the bottom of this page.

Q: What is a screening panel?
A:A newborn screening panel is the list of conditions that an infant will be screened for shortly after birth. The number and type of conditions found on a state’s newborn screening panel varies.
 
Q: What is the Recommended Uniform Screening Panel (RUSP)?
A: The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) provides national recommendations on newborn screening. These recommendations are reviewed by the Secretary of Health and Human Services. Currently, this committee recommends a screening panel of 31 core conditions and reporting of 26 secondary conditions.  These conditions are also known as the “Recommended Uniform Screening Panel” or RUSP. States use this uniform panel to inform their screening programs, but it is not enforced by law. Ultimately, the states still establish their own panels. View the Recommended Uniform Screening Panel on the SACHDNC website. Read more about the SACHDNC and other newborn screening resources on our Screening Resources page.
 
Q: What is the difference between core and secondary conditions in the RUSP?
A:Core conditions are the conditions that newborn screening is specifically designed to identify. A condition on the newborn screening panel is classified as a “core condition” if
  • There is a specific and sensitive test available to detect it
  • The health outcomes of the condition are well understood
  • There is an available and effective treatment
  • Identification of the condition could affect the future reproductive decisions of the family

Secondary conditions are the genetic conditions that can be identified when looking for 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.

 
Q: What if I want screening not provided by my state?
A: Because the conditions found on each state’s newborn screening panel is determined by the state, the number and type of conditions a baby will be screened vary depending on the state in which he or she is born.  Most states will screen for all the conditions found on the RUSP. Some states screen for more conditions. Parents have the option of pursuing additional screening for their child if they are concerned about a specific condition not being screened for in their state.  
 
Q: What is additional screening?
A: Additional screening, also known as supplemental screening, refers to additional testing that can be performed after participating in your state's newborn screening program. While each state screens for many conditions, there are more conditions that can be detected at birth. It is recommended that all babies be screened for all conditions on the RUSP, which currently contains 30 conditions. These conditions are chosen because they are able to be detected by newborn screening and have effective treatments available if caught early. Some of the additional conditions that can be identified by supplemental screening do not necessarily have a good treatment plan available.  If you have more questions about additional screening based on your family history or other health concerns, we recommend that you discuss them with a health care professional. Be sure to ask about what conditions are covered in your state and what additional information this screening may provide. You may also want to contact your insurance company to determine its policy regarding additional screening coverage, since the state program does not pay for additional screening or the follow-up treatment.

Private and nonprofit companies such as those below can provide information about their expanded newborn screening services. Please be aware that the resources listed below are for informational purposes only and do not indicate an endorsement or guarantee any outcomes.

2M Associates, Inc.
2M Associates, Inc. is associated with The University of Colorado Health Sciences Center, Denver, (U.S.A.) and provides expanded newborn screening in the U.S., India, the United Arab Emirates, and a number of other countries. All of the samples are processed in U.S. laboratories.
Phone number: 440-498-7484

Baylor Medical Center Institute of Metabolic Disease
This site offers educational material and information on newborn screening disorders. It also includes information on ordering supplemental newborn screening tests offered at Baylor.
Toll free number: 1-800-422-9567                                                 Website: http://www.baylorhealth.edu/research/institutescenters/imd/ pages/diseasesandrelatedtests.aspx

Mayo Medical Laboratories
Mayo Medical Laboratories, the reference laboratory for Mayo Clinic, provides supplemental newborn screening for more than 20 disorders using tandem mass spectrometry. The screening is performed separately from state-mandated screening and does not replace state-mandated screening. The test is performed under the supervision of pediatric geneticists in Mayo's Biochemical Genetics Laboratory.
Toll free number: 1-800-533-1710
Website: http://www.mayoclinic.org/laboratorygenetics-rst/metaboliteindex.html#A

PerkinElmer Genetics, Inc
PerkinElmer Genetics Screening Laboratory provides comprehensive newborn screening through a simple, fast and accurate product, StepOneTM. StepOne Comprehensive Newborn Screening detects more than 50 disorders in newborns from just a few drops of blood. This screening allows parents the opportunity to protect their babies from the preventable complications of undiagnosed disorders.
Toll free number: 1-866-463-6436                                                     Website: http://www.perkinelmergenetics.com/NewBornScreening.htm

University of Colorado Expanded Newborn Screening Program
The Expanded Newborn Screening Program allows parents to have their babies screened for over 20 additional disorders. Tests are run at the Biochemical Genetics Laboratory University of Colorado Health Sciences Center At Fitzsimons - Aurora, Colorado.
Phone number: 303-724-3826

 
Q: What are screening pilot programs?
A: When a state believes that adding a condition to the newborn screening panel could benefit both individuals and public health, it generally begins a study of the new test, called a pilot study. In most states, the parents will be asked whether they want their baby to be screened for the conditions in the pilot programs after the baby is born. If they say yes, no additional blood will be taken from the baby, but he or she will be screened for a number of conditions in addition to the routine newborn screening panel. Results of pilot studies are reported with routine screening results. As with routine newborn screening, if there is an out-of-range result, the parents will be contacted with follow-up testing instructions. Sometimes these pilot programs are offered to families who give birth at a particular hospital, care facility, or network.
 

To find a condition, select the condition from the list below. The list can be sorted so that conditions are displayed in alphabetical order (A to Z) or by condition "type".

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Conditions with an asterisk (*) are part of the federally recommended uniform screening panel. Conditions screened vary by state.

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