6 07, 2022

Genome-wide sequencing for prenatal diagnosis of fetal structural anomalies: Building the case

2022-07-05T12:19:36-04:00July 6th, 2022|Newsletter|

Use of genome sequencing in the prenatal diagnostic setting is steadily increasing. Karyotyping and chromosomal microarray (CMA) remain the leading strategies for investigating the potential genetic etiology of fetal structural anomalies; however, as more providers recognize the benefits of genome sequencing, its volume is increasing. This growing provider use has prompted position statements for the use

1 06, 2022

Case Study: Adult-onset phenotype with a dual diagnosis

2022-06-23T14:35:10-04:00June 1st, 2022|Case Study|

PerkinElmer Genomics offers whole genome sequencing (WGS) for every need: standard, prenatal, STAT, and ultrarapid. The clinical utility and relevance of WGS cannot be overstated. As demonstrated by this real case study from our laboratory, comprehensive WGS can finally bring answers to patients, families, and providers. Clinical Background 60-year-old male with a complex phenotype Progressive

16 05, 2022

PerkinElmer Expands Genomic Testing Services with Ultrarapid Whole Genome Sequencing

2022-06-23T14:35:10-04:00May 16th, 2022|News|

WALTHAM, Mass. – May 16, 2022 – PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced the availability of ultrarapid whole genome sequencing (urWGS) through PerkinElmer Genomics. This addition to the Company’s portfolio of whole genome sequencing (WGS) offerings provides physicians with comprehensive, meaningful results in five days to help inform clinical management and improve outcomes for critically ill patients in neonatal and pediatric intensive care units (NICUs and PICUs). With many genetic diseases being chronic and progressive in nature, reducing the time to reaching an accurate diagnosis can eliminate unnecessary procedures, initiate treatment and improve clinical outcomes.

9 05, 2022

ACMG practice guidelines: Exome & genome sequencing recommended for certain pediatric patients

2022-06-23T14:35:10-04:00May 9th, 2022|Newsletter|

In July 2021, The American College of Medical Genetics and Genomics (ACMG) released practice guidelines recommending that exome and genome sequencing be considered a first- or second-tier test for pediatric patients with congenital anomalies, developmental delay, or intellectual disability.1 ACMG’s systematic evidence-based review on the impact of exome and genome sequencing in this patient population found: Exome

15 04, 2022

Genomics Testing Companies and Laboratories Combine Efforts to Establish the CardioGenomic Testing Alliance

2022-06-23T14:35:10-04:00April 15th, 2022|News|

WASHINGTON, D.C., March 22, 2022 /PRNewswire/ — Several leading genomics companies and laboratories, including Illumina, Fulgent Genetics, Invitae, GeneDx, and PerkinElmer Genomics, have formed the CardioGenomic Testing Alliance (CGTA), a collaborative group aimed at raising awareness and utilization of genomic testing in cardiology.

12 04, 2022

Easter Holiday Closure Schedule

2022-06-23T14:35:10-04:00April 12th, 2022|Announcement|

In observation of the Easter holiday, please note that our Sweden lab will not be receiving samples between 14th April to 18th April. For samples that need to be processed during this time, please send them to our U.S. facility at 250 Industry Drive, Pittsburgh, PA 15275 USA. To ensure your patient data are confidential,

2 04, 2021

PerkinElmer Genomics Introduces Physician-Ordered Genetic Screening Test for Proactive Health Management

2022-06-23T14:35:10-04:00April 2nd, 2021|News|

WALTHAM, Massachusetts – (BUSINESS WIRE) – Today, in collaboration with Helix, PerkinElmer, Inc., a global leader committed to innovating for a healthier world, launched GenePrism: Actionable Insights, a new genetic screening test, offering the most comprehensive clinical-grade DNA sequencing and interpretation on the market right now, for anyone who wants to learn about underlying disease risks.

24 07, 2019

PerkinElmer and EverlyWell Announce Collaboration to Expand U.S. At-Home Health Test Market

2022-06-23T14:35:10-04:00July 24th, 2019|News|

WALTHAM, Massachusetts, and AUSTIN, Texas – July 24, 2019 – Today, PerkinElmer, Inc. and EverlyWell, Inc. announced a new collaboration designed to accelerate innovation in and accessibility of consumer-initiated health testing, by adding PerkinElmer’s CLIA-certified and CAP-accredited lab facilities to EverlyWell’s network of laboratory providers.

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