Screening, Diagnostic Testing and Cord Blood Banking

PerkinElmer Labs

Child feet on floor

Expertise and Insight at Your Service

With rapid advances in prenatal and neonatal testing, clinicians are challenged to stay current on what tests to order, how to interpret results and what to tell their patients. Now there’s a laboratory network that specializes in those needs while enabling earlier, more accurate results for the greatest possible insight.

PerkinElmer Labs—one source for genetic screening, diagnostic testing and cord blood services that expand the range of possible medical care options.

Four trusted names. One trusted network.

Prenatal Screening

The highest first trimester detection rates available1,2
Long recognized as the leading innovator in prenatal screening for open neural tube defects and Down syndrome, with more than 30 years’ experience in prenatal screening

NTD Labs 
  • The highest detection rate for Down syndrome and trisomy 18 and 13, with results at the earliest possible time in the first trimester (91% detec tion rate for Down syndrome using the free beta hCG biomarker; 95% detection rate when including optional nasal bone assessment)2
  • 24-to-48-hour turnaround time
  • Instant Risk Assessment: same day, in-office complete risk assessment for Down syndrome and trisomy 18 and 13 at time of ultrasound, as early as 11 weeks, 1 day gestation

Prenatal and Postnatal Diagnostic Testing

From karyotyping to expert microarray analysis
Offering multiple diagnostic testing options for providers treating high-risk pregnancies or evaluating individuals with unexplained physical and developmental disabilities

Signature Genomics 
  • Microarray testing, providing a higher diagnostic yield for patients with autism spectrum disorders, multiple congenital anomalies, developmental delay/intellectual disabilities and seizures; 5-to-7-day turnaround time3
  • Unique probe placement in the most clinically relevant regions based on thousands of clinical cases, providing the most relevant results and facilitating expert interpretation
  • Signature Precision Panel™ | Prenatal: detection of five chromosomal aneuploidies as well as common and severe known genetic syndromes; 24-to-48-hour turnaround time4-9

Newborn Screening

Full-range newborn screening, including SCID and LSD
The most complete panel of newborn screening services available to healthcare professionals, including Severe Combined Immunodeficiency (SCID) and Lysosomal Storage Disorders (LSD) on our StepOne™ / LSD Newborn Screening Packet (also known as HealthCheck | NB™)

PerkinElmer Genomics 
  • The nation’s largest private provider of newborn screening services9
  • High-quality results; low false positives
  • Fast turnaround time: birth to result in less than 5 days
  • Second-tier DNA confirmation testing at no extra charge
  • Ensures the most complete screening possible – can detect more than 50 disorders in newborns from just a few drops of blood9

Cord Blood Banking

Maximizing the potential of umbilical cord stem cells
A cord blood banking innovator and the only family cord blood bank that collects stem cells from three sources: cord blood, Wharton’s jelly and the perivascular cord tissue9

  • The highest number of units released for medical procedure transplants and infusions10
  • The highest published transplant survival rate (87% at 1 year11,12, 84% at 8 years11,13)
  • Proprietary method of isolating mesenchymal-like stem cells that recovers an average of eight times as many cells14 compared to other banks
  • Stored stem cells for over 250,000 newborns9

Results right on time.

For earlier insights with greater accuracy, look to PerkinElmer Labs. We provide state-of-the-art prenatal, neonatal and other specialty testing to enable early results and more informed decision-making as well as umbilical cord stem cell services to enable timely medical care options. Our proven accuracy, expertise and leadership are your assurances of the most clinically relevant insight obtainable.


1. NTD Labs. Data on file.
2. Perni SC, Predanic M, Kalish RB, et al. Clinical use of first-trimester aneuploidy screening in a United States population can replicate data from clinical trials. Am J Obstet Gynecol. 2006; 194(1):127–130.
3. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14;86(5):749–64.
4. Leung WC, Lau ET, Lao TT, Tang MHY. Rapid aneuploidy testing, traditional karyotyping, or both, in prenatal diagnosis. HKJGOM. 2005;5(1):33–39.
5. Gardner RJM, Sutherland GR, eds. Chromosome Abnormalities and Genetic Counseling. 3rd ed. New York, NY: Oxford University Press; 2004:chapters 15, 16, 17, 25.
6. Ballif BC, Theisen A, Coppinger J, et al. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet. 2008;1:8.
7. Grisart B, Willatt L, Destrée A, et al. 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. J Med Genet. 2009;46(8):524–530.
8. Harada N, Visser R, Dawson A, et al. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J Hum Genet. 2004;49(8):440–444.
9. PerkinElmer Inc. Data on file.
10. PerkinElmer. Data on file. December 2010. Data can be found at www.
11. Walters MC, Edwards S, Robertson S, Falcon K, Briddell R, Lubin B. Sibling donor cord blood transplantation for hemoglobinopathies. Poster presented at: 8th Annual International Umbilical Cord Blood Transplantation Symposium; June 3-5, 2010; San Francisco, CA. Based on available family bank data.
12. 98 of 113 patients treated by 2009 March. Overall survival rate.
13. Overall probability of survival; based on Kaplan-Meier probability curves.
14. Briddell R, Litkenhaus F, Foertsch G, Fuhrmann A, Foster K, Falcon Girard K, Fiscus B, Boehm A, Brown M, Pettit M, Rigas Bridges A, Nichols K, Fodor W and Kraus M. Recovery of viable MSCs isolated from fresh umbilical cord tissue, measured after cryopreservation, is on average 8-fold higher when compared to recovery of viable MSCs isolated from previously cryopreserved umbilical cord tissue.
ASH abstract submitted 2011 Aug. 11.

Disclaimer: Pursuant to applicable federal and/or state laboratory requirements, PerkinElmer Labs have established and verified the accuracy and precision of their respective testing services.

Banking cord blood does not guarantee that treatment will work and only a doctor can determine when it can be used. Cord tissue stem cells are not approved for use in treatment, but research is ongoing. ViaCord, LLC and ViaCord's Processing Laboratory are registered with the FDA.