Today, genetic testing company Invitae Corporation announced the addition of 80 new panels, along with updates to a supplementary 24 panels for the diagnosis of hereditary immunologic and metabolic disorders.
Among the panels is one designed specifically to confirm diagnoses suggested by newborn screening.
Genetic changes influencing the production and regulation of enzymes that assist in the body operating properly are often the cause of an array of inherited metabolic disorders, including many lysosomal
storage disorders. Genetic changes can also impact the immune system, resulting in conditions like primary immunodeficiency
Diagnosing these and other similar conditions definitively can be helped by comprehensive and accurate genetic testing, and these examinations can also determine which gene is involved, ultimately enabling patients and clinicians to make well-informed treatment decisions.
In a news release
, Olaf Bodamer, MD, PhD, Associate Chief of Genetics and Genomics at Boston Children's Hospital stated, "When we see children and newborns in whom we suspect a genetic condition based on clinical, immunological, or biochemical evidence, including newborn screening tests, we need fast, accurate testing to avoid a protracted diagnosis process. " Dr Bodamer added, "Well-curated panels are a cost-effective way to obtain actionable genetic information quickly for patients, enabling informed decision-making on a management plan when early intervention may make all the difference."
"Genetic disorders affecting metabolism or the immune system are very serious, often progressive, and typically begin within the first few months of life. As treatment breakthroughs continue to advance for these conditions, including enzyme replacement therapy and gene therapy, the importance of using genetic information to make an accurate, early diagnosis that can guide clinical decision-making also grows," said Robert Nussbaum, MD, chief medical officer of Invitae. "With this expansion, we are providing a comprehensive array of carefully designed testing options for clinicians, further enabling the use of genetic testing to guide diagnosis and medical care."
Doctors Can Choose Panels
Clinicians may choose one or more curated panels designed using current knowledge on the genetic changes associated with a variety of disorders, or they may design their very own customized tests based on a patient’s unique situation thanks to flexible testing options. Panel tests are offered at the same price regardless of how the clinician decides to move forward, and test results are often accessible in 10-21 days. Clinical consult and genetic counseling services are also available.
Among the new panels available are panels for lysosomal storage disorders (LSD), newborn screening confirmations, Severed Combined Immunodeficiency (SCID), Combined Immunodeficiency (CID), and genes associated with monogenic forms of inflammatory bowel disease.
Invitae has included deletion/duplication analysis with all testing at no additional charge, which allows for identification of the roughly 5-10% of pathogenic variants that have typically been thought of as hard to identify via next-generation sequencing.
For more information, visit Invitae at invitae.com