Signature Genomics from PerkinElmer is the leading innovator in microarray testing and is committed to offering state-of-the-art, medically relevant diagnostic testing to provide accurate and useful genetic information to patients and physicians. The scientists and genetic counselors at Signature Genomics have unmatched experience detecting chromosome abnormalities in pregnancies, newborns, and children to provide further understanding of their unique medical or developmental issues.

Prenatal Diagnostic Testing Services at Signature Genomics from PerkinElmer:

• Signature Precision Panel™ | Prenatal
  The Signature Precison Panel™ I Prenatal rapidly and accurately tests for certain common and potentially serious chromosomal abnormalities that cannot be detected by a traditional karyotype. The Signature Precision Panel™ I Prenatal detects abnormalities involving chromosomes 13, 18, 21, X and Y and also evaluates the chromosomes for 15 common and severe microdeletion syndromes. Results of the Signature Precison Panel™ I Prenatal are available 24-48 hours after sample receipt at the laboratory. A traditional karyotype can also be performed as part of this diagnostic testing package.

• Signature PrenatalChip®TE
  The Signature PrenatalChip®TE (Targeted Enhanced) microarray testing option features a unique clinically-relevant targeted design. The Signature PrenatalChip®TE can detect chromosome imbalances expected to be identified by karyotyping and offers enhanced capability to detect and characterize chromosome imbalances that are too small to be identified by karyotyping. The PrenatalChip® TE detects over 160 clinically recognized syndromes.
• Signature PrenatalChip®OS
  The Signature PrenatalChip®OS features high-density coverage of the genome and is the most comprehensive clinically-relevant oligonucleotide-based microarray for diagnostic use. The PrenatalChip®OS evaluates over 200 known genetic syndromes and over 500 gene regions of functional significance in human development.
• Signature Karyotype
  The Signature Karyotype delivers a structural view of all chromosomes of the pregnancy. Results are available in 10-14 days after sample receipt at the laboratory.
• Additional Testing Services:
  • Signature FISH
    The Signature FISH test provides FISH analysis of one or two clinically relevant loci using our extensive library of BAC clones. FISH can provide information about the nature of chromosome alterations and is an important component of diagnosis and determination of recurrence risks.
  • Maternal Cell Contamination (MCC) Studies
    MCC testing is recommended in conjunction with each prenatal sample received. This requires 3-5 ml of maternal blood in EDTA (purple-top tube).
  • AFP and AChE testing on amniotic fluid
    This analysis is used to screen for open neural tube defects (ONTDs) and abdominal wall defects on amniotic fluid samples.

Signature Genomics is part of PerkinElmer, a leader in human health

PerkinElmer is driven by a global mission to improve human health that extends beyond the lab and into hospitals and homes. Our innovative screenings and treatments help generate earlier medical insights, more accurate results, and more effective therapies.

For more information please contact Signature Genomics at 1.877.744.2447 or visit www.signaturegenomics.com.

The testing services above were developed and performance characteristics determined by Signature Genomic Laboratories as required by CLIA '88 regulations. The testing services have not been cleared or approved for specific uses by the U.S. Food and Drug Administration. Pursuant to the requirements of CLIA '88, this laboratory has established and verified the accuracy and precision of the tests.