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
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 |
Second-Tier Testing FAQs
For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.
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.