Supplemental Newborn Screening

NBS photo Sadie

Are you or is someone you love expecting a child?  Ensure your baby has the best chance at a healthy start to life through Supplemental Newborn Screening.

No state includes all possible potentially fatal, but treatable, diseases in its Newborn Screening Program. Currently, New York, Missouri, and Kentucky are the only states that screen newborns for Krabbe Disease.

With one simple heel prick, your child can be screened for over 60 diseases at birth through Supplemental Newborn Screening, no matter where they are born!

PerkinElmer Genetics offers Supplemental Newborn Screening to screen for Krabbe and five Lysosomal Storage Disorders (LSDs) - Fabry, Gaucher, Pompe, Hurler Syndrome and Niemann-Pick A/B.

Pennsylvania: If you're delivering at one of these Pennsylvania hospitals, you will need an LSD Only packet as they're already screening for the other diseases included in the StepOne packet. Click here for a list of Pennsylvania hospitals where a LSD Only packet is sufficient.

Order Here Button Supplemental Newborn Screening

To find out what diseases your state screens for, visit Baby's First Test.

Lysosomal Storage Disorder screening, including Krabbe, is available as stand-alone testing in the Lysosomal Storage Disorders (LSD Only Packet) or included with the StepOne® / LSD Newborn Screening Packet.* You can also get the StepOne® Packet without the LSD Packet, which includes testing for over 50 diseases. PerkinElmer Genetics, Inc. provides these three Packets to Hunter's Hope at a significantly reduced cost, which we pass on to you:

What to Expect...

NBS_Pregnant_Belly_PicIf you or someone you know is expecting, Supplemental Newborn Screening (SNBS) is a great way to make sure your baby is screened for over 60 diseases at birth.

Once you receive your packet, review the enclosed instructions carefully and discuss your plan to use a Supplemental Newborn Screening Packet with your physician and your baby's pediatrician prior to your delivery. It may be helpful to let your pediatrician's office know to expect a fax with your baby's SNBS results.

Take your SNBS packet with you to the hospital at the time of delivery and let your nurse know you want to be present when your baby's newborn screening is done.

With one heel prick, a healthcare professional will take a small sample of blood and place it on the absorbent filter paper located in the packet, while also taking a similar sample for the state's newborn screening test.

After the sample is collected, you or another family member will ship the packet back to PerkinElmer using the provided envelope.  The results are faxed directly to your baby's pediatrician.

Make sure to ask your pediatrician about the state and supplemental newborn screening results at your baby's two-week check up.

Hunter's Hope remains committed to advocating for every state to screen for all treatable diseases; but in the meantime, you can ensure your newborn is screened for over 60 diseases through Supplemental Newborn Screening.

If you are located outside of the U.S and are interested in Supplemental Newborn Screening, please contact us at

Additional Supplemental NBS Resources
PerkinElmer Genetics, Inc. Mayo Medical Laboratories
University of Colorado Expanded NBS Program
2M Associates, Inc.
Baylor Medical Center Institute of Metabolic Disease

*Hunter's Hope does not imply endorsement of any particular company.