Newsletter Archives

4 08, 2022

Panels and exome sequencing: Comprehensive solutions for cardiomyopathies

jjones2022-08-16T09:43:11-04:00August 4th, 2022|Newsletter|

Mutations in the MYH7 and MYBPC3 genes account for approximately 50%1 of cases of hypertrophic cardiomyopathy (HCM). But HCM can also be caused by pathogenic variants in many genes (genetic heterogeneity), including seven additional sarcomeric genes (MYBPC3, TNNT2, TPM1, MYL2, MYL3, TNNI3, ACTC1). Further complicating the HCM picture are disorders such as Pompe disease, Fabry disease, PRKAG2‐cardiomyopathy, Danon disease, TTR‐amyloidosis, and

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

jjones2022-07-05T12:19:36-04:00July 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

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

jjones2022-06-23T14:35:10-04:00May 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