Invitae’s Post

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, with imaging being a prominent way to diagnose it. However, NephU’s latest infographic “Interpreting Genetic Testing In Cystic Kidney Disease,” illustrates that genetic testing is becoming an increasingly popular component of diagnosis. Download and learn more now! https://go.nephu.org/MCRD #GeneticTesting #CKD #KidneyHealth #NephU

Ensure a healthy start for your little one with genetic screening! Learn about common genetic disorders like cystic fibrosis, Fragile X syndrome, sickle cell disease, and more. Take proactive steps towards a brighter future#proactiveparenting . . . . #GeneticScreening #HealthyBaby #PreventionIsKey #FamilyWellness #ProactiveParenting

Genetic testing for hereditary hearing loss can clarify whether the loss is nonsyndromic or syndromic, which means other organ systems might be involved. Learn how our testing provides accurate results to elevate patient outcomes. https://bit.ly/48O2aJM

Genetic testing holds the potential to uncover the underlying genetic cause in as many as 76 percent of individuals facing an inherited retinal disease (IRD). However, patients can encounter many hurdles when seeking genetic testing, including high out-of-pocket medical costs, a lengthy referral process, and limited availability of genetic counselors, just to name a few. As we research advanced #IRD treatments, we are supporting patients in search of a diagnosis by raising awareness and working to make #GeneticTesting more accessible. Johnson & Johnson is a sponsor of Prevent Blindness’ #IRDMonth. Learn about the benefits of genetic testing and decide if it’s right for you: https://lnkd.in/e7yEHTBU #JNJRetina

Why is genetic testing crucial for Autosomal Dominant Polycystic Kidney Disease (ADPKD)? While the presence of cysts on imaging in a patient with a family history of ADPKD often allows for diagnosis, genetic testing is important to rule out other hereditary conditions, like for those that have a high risk of end-stage kidney disease (ESKD). Learn more about our ADPKD Panel: https://ow.ly/6PLC50QO9ZM

🧬 PD GENEration: Mapping the Future of Parkinson’s Disease is a national initiative that offers genetic testing for clinically relevant Parkinson's-related genes and genetic counseling at no cost for people with PD. If you have a confirmed diagnosis, sign up for free today: Parkinson.org/PDGENEration

Source: GeneReviews Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. There are two types of Canavan disease: typical and atypical. Typical Canavan disease is more severe and presents with neurodevelopmental impairments followed by neurodegeneration and developmental regression. Atypical Canavan disease is less severe and has a more variable clinical course. Diagnosis can be made through biochemical or molecular genetic testing. Treatment involves multidisciplinary care and surveillance for various aspects of the disease. Canavan disease is inherited in an autosomal recessive manner.

In this short film mito warrior Danielle provides an insight into her diagnostic journey. Danielle talks about her personal experience and about why getting a genetic diagnosis is important for patients with mitochondrial disease. Find out more about our Precision Diagnostics research project today: https://bit.ly/3mcZliT #mitochondrialdisease #thelilyfoundation #diagnosis #hope

NEW WHITE PAPER: Exome Sequencing has become the first line diagnostic test for patients with suspected genetic disorders. Learn how Ambry's Patient for Life program provides an unmatched model for the use of genomic reanalysis in elevating the standard of care for all patients. #exome #genetictesting #VUS #healthequity #PatientforLife https://hubs.ly/Q02r3yVB0

Together with the OCRA policy team, our Advocate Leaders are working to advance crucial legislative goals. Learn more about their actions, including efforts to broaden access to biomarker testing and expand genetic testing protections: bit.ly/3wwg6um. #TealAction #OvarianCancer #PatientAdvocacy