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

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 of whole exome sequencing (WES) in prenatal cases from professional organizations including the American College of Medical Genetics and Genomics (ACMG), the British Society for Genetic Medicine, and the International Society for Prenatal Diagnosis (ISPD).1-3 Mellis et al. conducted a meta-analysis of literature published between January

Case Study: Adult-onset phenotype with a dual diagnosis

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 ataxia presenting in 30s Intention tremors Gait abnormalities Dystonia Dysarthria Sensory polyneuropathy Weight loss Family History Family history of ataxia Testing History Repeat expansion evaluation for spinocerebellar ataxias (SCA) 1,2,3,6,7,8,10,17, dentatorubral-pallidoluysian atrophy (DRPLA) and Fragile X - NEGATIVE Gene

PerkinElmer Expands Genomic Testing Services with Ultrarapid Whole Genome Sequencing

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.

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

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 and genome sequencing had a higher diagnostic yield than standard genetic testing (ex. single gene, panels, CMA).Increased evidence of therapeutic benefit.Lower cost per diagnosis when exome or genome sequencing (ES/GS) is used as a first- or second-tier test in the