Newborn Screening Awareness Month

Please join us this September and all year long, as we recognize the importance of newborn screening and the dedication of all the clinicians who protect the health and wellbeing of our most vulnerable population.

When a newborn receives a positive genetic screening result, the world can seem to come to a halt for the entire family. Invitae is dedicated to being there for you in that moment. Our goal is to help you find answers and a path forward as quickly as possible.

Panels by biochemical analyte

Invitae is the only laboratory to offer molecular sequencing panels based on the biochemical analyte that was flagged on the initial newborn screening result. These panels by analyte have been curated by our team of biochemical geneticists specifically to help streamline genetic testing when confirming a positive newborn screen. Clinicians can select a panel based on the specific acylcarnitine or amino acid profile abnormality indicated on the test result.

Panels for premature infants and babies in intensive care

Invitae understands the difficulties that arise when trying to get an accurate newborn screening result for premature infants or babies in the NICU. Confounding factors, such as liver immaturity, the use of total parenteral nutrition, and the use of antibiotics can often result in an ambiguous biochemical result. For these cases, we have developed the Invitae Metabolic Disorders Newborn Screening Confirmation Panel, which provides sequencing, including deletion and duplication, of 90 primary genes associated with metabolic conditions included in most US newborn screening programs. Clinicians also have the option to add up to 139 additional genes, at no extra charge, to the primary panel to further tailor testing to their patients’ needs.

Panels for treatable neurometabolic disorders

Invitae supports clinicians in their quest to never miss a treatable newborn disorder. We have developed the Invitae Treatable Neurometabolic Disorders Panel, which offers sequencing, including deletion and duplication, of 92 genes associated with conditions that currently have some form of treatment. This panel can be used as a supplement for newborn screening in states that screen for fewer conditions or ordered for symptomatic patients.

For more information about Invitae’s testing options, please visit our complete metabolic disorders and newborn screening test menu or reach out to Client Services.

 Have a tough case?

Invitae’s board-certified genetic counselors are available on-demand to review patient cases, differentiate between confirmatory newborn screening panel options, aid in interpreting results, and identify relevant management guidelines. Just call 800-436-3037 between 5:00 am and 5:00 pm Pacific, Monday through Friday.