Order - Newborn Screening Tests (Patients)

Ensure a healthy start in life with StepOne®

Prevention

StepOne Newborn Screening can detect more than 50 disorders in newborns from just a few drops of blood. This screening gives parents the opportunity to protect your baby from the preventable complication of undiagnosed disorders. Many of these disorders are manageable if treatment begins early. When it comes to the health of your child, any information is valuable information. StepOne determines the risk your baby is at for a metabolic or other inherited disorder. An abnormal result indicates the need for diagnostic testing to confirm the presence of a disorder. If your baby is diagnosed with one of these disorders, early medical intervention can play a key role in helping your child to lead a normal life and StepOne is the first step in this process.

What is the process?

  1. Our StepOne parent packets may be ordered through this web site at Order StepOne or by calling 866-463-6436;
  2. The packet will be shipped directly to you and will contain all of the information and materials required to have your newborn screened;
  3. Screening your baby is simple, but it must be coordinated by a physician.
  4. Take your StepOne packet with you to the hospital at the time of delivery. A physician letter and the filter paper for the blood specimen collection will have instructions on the back side on how to coordinate, handle and submit the filter paper for analysis;
  5. Specimens should be drawn between 24 and 48 hours after birth. Please ensure all demographic fields are completed; A healthcare professional will take a small sample of blood by pricking the baby’s heel and place it on the absorbent filter paper located in the packet;
  6. After the sample dries, the healthcare provider will return it to you the parent for shipment.
  7. For your convenience, a prepaid UPS envelope is provided in the packet. Please return the filter paper with the blood spots and the Physicians Form for Results to our lab where professionals use different screening methods and equipment to analyze the sample.
  8. The results are given directly to your baby’s physician you provided on the Form for Results.

If your baby’s physician denies your request for screening, you will be provided with a full refund of payment. Always seek the advice of your baby’s physician if you have questions or before you stop, start, or change any treatment plan for your baby. PerkinElmer Genetics services and materials are not as substitute for medical advice, diagnosis, or treatment.

Key points

  1. While more than 50 inherited disorders are detectable today, the number of disorders tested varies from state to state by your Department of Health;
  2. The American College of Medical Genetics and Genomics has proposed a Recommended Uniform Screening Panel (RUSP) for 58 disorders, which will affect approximately 1 out of 750 babies;
  3. PerkinElmer Genetics has 20 years of experience screening over 6.5 million babies;
  4. Genetic Counselors and Research Scientists on staff;
  5. State-of-the-art-technology;
  6. Turn-around Time - 72 hours from receipt of specimen;
  7. Results available to physicians on a secure Results Portal;
  8. Fully accredited laboratory.

Disclaimer

The analyses conducted by PerkinElmer Genetics produce results that can be used by qualified physicians in the diagnosis of disorders described herein. Evidence of these conditions will be detected in the vast majority of affected individuals; however, due to genetic variability, age of the patient at the time of specimen collection, quality of the specimen, health status of the patient, and other variables, such conditions may not be detected in all affected patients.

Pursuant to applicable federal and/or state laboratory requirements, PerkinElmer Genetics has established and verified the accuracy and precision of its laboratory developed testing services. Tests are developed and performance characteristics are determined by PerkinElmer Genetics.

Contact us

Normal Business Hours

Client Services Department
Monday thru Friday 8 AM Eastern to 5 PM Eastern
Phone: 1-412-220-2300
Toll Free: 1-866-463-6436
Fax: 1-412-220-0784
Form: Contact us via web form