The Holidays will look different this year. While many of us won’t be gathering with our families, it is as important as ever to talk about family health history. We share a lot with our families, including our DNA. Everyone has a family history of something, whether high blood pressure, diabetes, or a rare genetic disorder.
We are pleased to announce our updated testing options for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The Amyotrophic Lateral Sclerosis Panel and Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Panel have all been expanded to include more genes involved in ALS and FTD.
Intellectual disability (ID), epilepsy, and autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are inherited in a multifactorial fashion. PreventionGenetics’ Intellectual Disability, Epilepsy, and Autism (IDEA) Panel is exome-based and allows for reflex to PGxome whole exome sequencing. This panel also includes exome-wide copy number variant (CNV) detection. This method allows for cost-effective identification and reporting of potentially important, large CNVs across the full exome in conjunction with any sequencing variants and/or smaller CNVs identified within the panel.
We're Excited to Announce the Launch of Our Whole Genome Sequencing Test: PGnome®
Prices start at $2,490 for testing of a single patient. WGS is the ultimate germline DNA test. WGS is superior to exome sequencing because it covers portions of the genome, such as deep intronic regions, that are not covered by exome sequencing and yields superior detection of structural variants. In addition, genome sequencing provides improved analysis of tandem repeats and paralogous regions and is essential for application of polygenic risk algorithms. The great majority of variants used by polygenic risk algorithms are not located in coding regions and are, therefore, missed entirely by exome sequencing.
PreventionGenetics (PG) is pleased to announce PG Discovery, the latest enhancement to our PGxome® whole exome and PGnome® whole genome sequencing tests. With PG Discovery, we will report relevant rare variants in genes with limited evidence of disease association, commonly known as candidate genes.
