Newborn metabolic screening
This screening uses tandem mass spectrometry and fluoroimmunoassay to assess selected inherited metabolic conditions. An abnormal screening result is not a diagnosis.
Newborn Metabolic Screening
Before testing
Review the information and provide informed consent.
Sample collection
A healthcare professional collects the sample following the laboratory protocol.
Screening result
An abnormal result may need confirmatory testing and clinical follow-up.
Clinical guidance
Discuss screening and next steps with your child’s clinician.
About newborn metabolic screening
Inherited metabolic conditions can affect how the body processes nutrients. Some may not be apparent at birth. Screening assesses selected conditions and does not diagnose them:
Some conditions may not be apparent at birth; signs and health effects vary.
Some are inherited; family history may not always be known.
An abnormal screening result needs clinical follow-up and may require confirmatory testing.
Who may discuss newborn metabolic screening?
Ask a clinician whether screening is suitable for your newborn.
Discuss family history of metabolic or genetic conditions with a clinician.
For premature or medically complex newborns, discuss timing and suitability with the treating clinician.
Screening information
Screening is not a diagnosis
Abnormal results need clinical follow-up and may require confirmatory testing.
Laboratory methods
Tandem mass spectrometry and fluoroimmunoassay are used for screening.
Clinical follow-up
Discuss results and next steps with your child’s clinician.
Package details
Confirm current panel contents, collection instructions, and timing with the team.
Collection and result timing
Collection timing
Discuss whether collection should occur after 48 hours or the sixth feeding; follow current clinician or laboratory instructions.
Sample type
Collection may use three dried blood spots or at least 1 mL of blood. Confirm current instructions with the laboratory.
Result timing
Ask the team to confirm the current estimated turnaround time.
Panel options
Condition coverage varies by package. Request the current written condition list before testing.
Examples of metabolic conditions
Examples below are for general information only. The conditions included in a screening package vary; confirm the current panel list with the laboratory.
Screening estimates risk and is not a diagnosis. Abnormal findings need clinical follow-up and may require confirmatory testing.
Screening information
Tandem mass spectrometry
The screening uses tandem mass spectrometry and fluoroimmunoassay.
Discuss collection timing
Discuss whether collection should occur after 48 hours or the sixth feeding; follow current clinician or laboratory instructions.
Abnormal results need review
A screening result alone does not establish a diagnosis.
Confirm package contents
Ask the team for the current list of conditions included in your package.
Examples of conditions
Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited metabolic condition. Signs and care needs vary; diagnosis and treatment require clinical assessment.
Methylmalonic Acidemia (MMA)
Methylmalonic acidemia (MMA) is an inherited metabolic condition. Signs and care needs vary; diagnosis and treatment require clinical assessment.
Service Process
Counseling and consent
Review the information, provide informed consent, and arrange sample collection.
Sample transport
The sample is sent to the laboratory.
Sample receipt
The laboratory receives the sample and records its details.
Testing and analysis
The sample is tested and analyzed.
Interpretation and report
Results are interpreted and reported; discuss them with a clinician.
Three dried blood spots or at least 1 mL of blood; confirm current laboratory instructions.
Newborns, as advised by a clinician.
Discuss whether collection should occur after 48 hours or the sixth feeding; follow current clinician or laboratory instructions.
Frequently Asked Questions
What does newborn metabolic screening do?
Screening checks for selected metabolic conditions. It estimates risk and is not a diagnosis; the exact conditions covered depend on the package.
Does an abnormal first screen confirm a condition?
No. An abnormal screening result is not a diagnosis. Metabolite levels can be affected by factors other than a metabolic condition; a clinician may recommend repeat or confirmatory testing.
What if a repeat screen is still abnormal?
Contact the child’s clinician for further assessment and any needed diagnostic testing. Diagnosis and treatment decisions should be made by qualified healthcare professionals.