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. The nurse will also 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. Then, 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.
Please Note: The State Public Health Lab (SPHL) at 396 West Street, Rocky Hill, CT 06067 accepts NBS samples 24 hours a day, 7 days a week. It is recommended that samples be:
- Directly dropped off
- Mailed with 1-2 day delivery and tracking
- Delivered with sample or next day courier service
When dropping off samples after regular business hours, please ring the bell at the guard station entrance.
Resources for healthcare providers
- Hearing screening information
- Critical congenital heart disease screening
- Disorder analytes and cut offs (PDF)
- Shipment guideline (PDF)
- Collection guidelines (PDF)
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
- Classic Galactosemia Knowledge Nugget
- Glutaric Acidemia Type 1 Knowledge Nugget
- Guanidinoacetate Methyltransferase Deficiency Knowledge Nugget
- Hemoglobin S/C Disease Knowledge Nugget
- Krabbe Disease Knowledge Nugget
- Medium-Chain Acyl-Coa Dehydrogenase (MCAD) Deficiency Knowledge Nugget
- Mucopolysaccharidosis Type I (MPS I) Knowledge Nugget
- Mucopolysaccharidosis Type II (MPS II) Knowledge Nugget
- Pompe Disease Knowledge Nugget
- Spinal Muscular Atrophy (SMA) Knowledge Nugget
- Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Knowledge Nugget
- X-Linked Adrenoleukodystrophy (X-ALD) Knowledge Nugget