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PerkinElmer is a market leader in newborn screening globally, and currently serves customers in more than 100 countries. We screen for over 50 different conditions, and offer the latest genetic testing to confirm the results from the primary screen.

Benefits

  • Comprehensive Test Menu: From single biochemical screening tests to large newborn screening genetic testing panels, we strive to be a one-stop-shop for all of your newborn screening needs.
  • Rapid Turn-Around-Times (TAT): 
    • Newborn Screening Genetic Testing Panels up to only a 3-week TAT
  • Simple Sample Collection: All testing options can be performed on as little as a few drops of blood collected on a dried blood spot card.
  • Customizable Testing Options: If you don’t see a genetic testing option that meets your needs, we can make it for you with our AnyPanel testing option.

Testing Options

Comprehensive gene panels that cover conditions manifesting in the newborn and/or pediatric periods of life.

Test Code Test Name Turn Around Time
D3005 NeoSeq Newborn and Pediatric Gene Panel 3-5 weeks Learn More
D3004 Expanded Newborn Screening and Gene Sequencing Panel with ABCD1 and CYP21A2
1093 Genes
3-5 weeks Learn More
D3002 Newborn screening (NBS) Gene Sequencing Panel with ABCD1 and CYP21A2
84 Genes
3-5 weeks Learn More
D3003 Newborn Screening and Lysosomal Storage Disease Panel with ABCD1, CYP21A2, and GBA
97 Genes
3-5 weeks Learn More

FAQs

For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.

Yes, customizable panels can be offered through our AnyPanel™ test offering. Additional details can be found here

All biochemical assays, including the StepOne® Comprehensive Biochemical Profile, require a dried blood sample. For any of our genetic testing options, we can accept a variety of sample types, including: Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.

For a correctly collected sample, the blood should completely fill each circle on the Dried Blood Spot Card. An example can be found here.

All reported variants found via genetic testing are confirmed using an orthogonal method.

How to Order

  • Select the correct test for your patient, and fill out the Molecular and Biochemical test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
  • Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here, and we can have one sent to you directly.
    • Ensure that the patient sample is labeled with the patient name and date of birth.
  • Package the patient sample, informed consent form and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
Requisition Form
Online Ordering Page