Newborn Screening for Severe Combined Immunodeficiency: Second Tier Next Generation Sequencing and Long Term Follow-up
This study enrolls newborns and their families. The purpose of this study is to learn more about newborn screening for immunodeficiency.
As part of this study, additional testing is offered to every child with a positive newborn screening for immunodeficiency who needs more evaluation by an immunologist or infectious disease specialist. Parents can participate too though genetic testing and/or blood testing.
The long term goal of this study is to improve the quality of newborn screening by increasing the specificity of the screening algorithm, decreasing the time to molecular diagnosis and expanding the knowledge-base on molecular and phenotypic outcomes of a positive TREC screen.
Let us know how the study team can reach you. If you do not hear back within 2 business days, reach out to the study team directly at the
contact information above or email firstname.lastname@example.org and someone will assist you.
Your information will be shared only with the research study team for recruitment purposes and designated CTSI personnel for project quality
assurance and will remain confidential. Your information will be stored indefinitely. Should you no longer want this information to be provided
in the aforementioned ways, please contact email@example.com.