About Available Genetic Testing Panels

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 of Available Genetic Testing Panels

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.

Order Testing

Test Resources

Test Requisition Form
Online Ordering

Available Genetic Testing Panels 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 Order Test
D3004 Expanded Newborn Screening and Gene Sequencing Panel with ABCD1 and CYP21A2
269 Genes
3-5 weeks Order Test
D3002 Newborn screening (NBS) Gene Sequencing Panel with ABCD1 and CYP21A2
82 Genes
3-5 weeks Order Test
D3003 Newborn Screening and Lysosomal Storage Disease Panel with ABCD1, CYP21A2, and GBA
94 Genes
3-5 weeks Order Test

How to Order

1. Choose Your Test


2. Collect Sample


3. Send Sample


Available Genetic Testing Panels 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.

Contact PerkinElmer Genomics for more information