CT NBS Panel
More information on the disorders that CT Screens for through bloodspot testing.
When an infant has an out-of-range newborn screening result, Connecticut Newborn Screening Program (CT NBS) follow-up unit staff will notify the current health care provider by phone and fax. CT NBS follow-up staff will either request another heel-stick sample for repeat screening (for a borderline abnormal result) or will notify the Connecticut Newborn Screening Network (CNSN) of the result (for presumptive positive or time sensitive results). Following a report of a presumptive positive result or time sensitive result, a nurse from the Network will contact the baby’s current health care provider with follow up instructions and will order diagnostic laboratory testing, if indicated.
If you receive notification of the need for a repeat heel-stick sample, please collect the heel-stick sample within 2 business days of receipt of the request from the CT NBS Program, unless otherwise instructed, and send to the state laboratory within 24 hours of collection. Your office will be asked to expedite collection and shipping of the specimen to the state lab if the infant never had an initial newborn screening completed for any reason.
Knowledge Nuggets
Knowledge Nuggets are a resource for providers created by the American College of Medical Genetics and Genomics (ACMG). Their Knowledge Nuggets are a visual representation of ACT Sheets, which are a resource created for health care providers that are looking for information and clinical guidance on genetic conditions. They are a great tool for supporting non-genetic providers understand more about these conditions.
Alpha Thalassemia Knowledge Nugget
Beta Thalassemia Knowledge Nugget
Biotinidase Deficiency Knowledge Nugget
Glutaric Acidemia Type 1 Knowledge Nugget
Hemoglobin S/C Disease Knowledge Nugget
Hemoglobin S/S Disease (Sickle Cell Disease) Knowledge Nugget
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Knowledge Nugget