About Second Tier Testing

With over 7.5 million babies screened globally since 1994, PerkinElmer Genomics is one of the world’s largest providers of newborn screening services. With a menu ranging from single biochemical screening tests to large newborn screening genetic testing panels, we strive to be a one-stop-solution for all of your newborn screening needs. PerkinElmer Genomics is dedicated to improving the lives of families by offering early detection of inherited disorders, and is proud to continue to assist in saving the lives of thousands of babies every year.

Features of Second Tier Testing

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):  Biochemical testing with a 3-day TAT and genetic testing up to 3-weeks.

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.

Reflex Testing Available:  Ability to easily reflex to second-tier diagnostic genetic testing, as needed.

Benefits of WGS

Rapid Turn-Around-Times
Genome TATs that beat most competitors Exome TATs: Average TAT of 6-8 weeks for our standard WGS offering. STAT testing is also available with a TAT of just 10-12 days.

Unique and Flexible Test Menu
Choose the options that make sense for your patients, including the integration of biochemical results from PerkinElmer’s StepOne® comprehensive biochemical profile in WGS results to aid in clinical correlation.

Enhanced variant analysis and interpretation efficiencies
PerkinElmer Genomics is the first global laboratory to fully integrate FDNA’s Next-Generation Phenotyping technologies into our variant analysis and interpretation workflows. Adding enriched phenotypic data and the power of artificial intelligence to our process allows us to achieve more efficient and accurate diagnoses.

Multiple Sample Types
Acceptance of multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

Increased Accessibility to Testing
PerkinElmer Genomics’ position as an industry leader in Next-Generation Sequencing (NGS) testing solutions allow us to introduce unmatched automation and efficiencies in our clinical laboratory, and we are happy to pass on those cost savings to our patients in the form of industry-leading pricing for WGS. In addition to WGS prices that approach or beat the cost of most Whole Exome Sequencing (WES) tests in the market, we also offer an interest-free payment option to patients choosing the self-pay option

Test Resources

Test Requisition Form
Online Ordering

Second Tier Testing Options

Second-tier testing options can be used to confirm the presence of a genetic disorder after an abnormal newborn screen result. These tests may consist of follow-up biochemical screens and/or genetic tests comprising the most common disease-causing mutations for a specific condition.

Test Code Test Name Turn Around Time
D0408 Sickle Cell and Other Hemoglobinopathies Mutation Panel 11 -12 days Learn More
B0002 Congenital adrenal hyperplasia – 17A Hydroxyprogesterone (17 OHP) 2 -3 days Learn More
B0003 Thyroid-Stimulating Hormone (TSH) 2 -3 days Learn More
B0004 Thyroxine (T4) 2 -3 days Learn More
D0410 3-MCC Deficiency Mutation Panel 11 -12 days Learn More
D0406 Glutaric Acidemia Type I Mutation Panel 11 -12 days Learn More
D0409 Isovaleric Acidemia Mutation Panel 2-3 weeks Learn More
D0407 LCHADD Mutation Panel 11 -12 days Learn More
D0401 Maple Syrup Urine Disease Mutation Panel 11 -12 days Learn More
D0400 MCADD Mutation Panel 11 -12 days Learn More
D0411 Methylmalonic Acidemia Mutation Panel 11 -12 days Learn More
D0412 Propionic Acidemia Mutation Panel 11 -12 days Learn More
D0402 Biotinidase Deficiency Mutation Panel 11 -12 days Learn More
D0403 Cystic Fibrosis Mutation Panel 10  days Learn More
D0405 Galactosemia Mutation Panel 11 -12 days Learn More

How to Order

1. Choose Your Test

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2. Collect Sample

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3. Send Sample

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Second-Tier Testing FAQs

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. Click here for all Specimen Requirements.

Detailed directions on sample collection are included in each individual sample collection kit. Additionally, a copy of those instructions can be found here.
For a correctly collected sample, the blood should completely fill each circle on the Dried Blood Spot Card. An example can be found here.
The TAT can vary depending on the type of test selected. In general the TATs are 3 days for most biochemical assays.

Contact PerkinElmer Genomics for more information

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