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Some of the Best Gifts in Life Cannot be Wrapped

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With the holidays around the corner, remember that some of the best gifts in life cannot be wrapped.  Your patients plan for their family’s financial future by buying life insurance. Some have prepared a will in order to leave their assets to loved ones. These are things they can do on their own.  As their healthcare provider, they need your help to plan for the future health of their whole family.  Help them bank DNA to preserve their genetic legacy for future generations.

Introducing Our New Skeletal Disorders and Joint Problems Panel

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We are excited to announce a new, 258 gene comprehensive sequencing and deletion/duplication panel for Skeletal Disorders and Joint Problems

Genetic skeletal disorders are a clinically and genetically heterogeneous group that impair skeletal and joint function. This makes identifying the genetic cause especially challenging. Overall, genetic skeletal disorders can be divided into 42 groups comprising 436 disorders based on the nosology and classification of genetic skeletal disorders (Bonafe et al. 2015. PubMed ID: 26394607). While useful, the groupings are imperfect due to the inherent overlap in radiological and clinical features of many of these disorders. With this in mind, PreventionGenetics’ comprehensive panel was designed to maximize clinical sensitivity to achieve a molecular diagnosis for patients with clinically suspicious skeletal abnormalities and joint problems. 

Genetic Testing for Inherited Metabolic Disorders

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PreventionGenetics offers a wide variety of genetic testing for inherited metabolic disorders, also known as inborn errors of metabolism. Panels specific to one disorder are available, as well as large panels that cover broader phenotypic features or groups of similar disorders, including, for example, tests for hyperammonemia(37 genes); metabolic hypoglycemia (22 genes); and metabolic myopathies, rhabdomyolysis, and exercise intolerance (59 genes). Over the past year, we’ve begun offering several new tests related to these disorders, and many of our existing panels have been updated to include more genes and increase clinical sensitivity. 

Thanksgiving Holiday Shipping Schedule

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PreventionGenetics will not receive specimens on Thursday, November 23 or Friday, November 24 in observance of the Thanksgiving holiday. We will receive specimens on Saturday, November 25.  We request that all cell culture and prenatal specimens be shipped so that they are delivered before Thursday, November 23 or starting Monday, November 27. 

Happy Thanksgiving from all of us at PreventionGenetics! Please contact us with any questions.

Observing Pregnancy and Infant Loss Awareness Month

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Pregnancy and infant losses affect women and families every day. The prevalence of these tragic losses led President Ronald Reagan to designate October as National Pregnancy and Infant Loss Awareness Month in 1988. Miscarriages are both common and distressing complications of early pregnancy, occurring in 15% of clinically recognized pregnancies. The majority of miscarriage losses occur early; however, 2-3% are in the second trimester (Van den Berg et al., 2012; Hardy and Hardy, 2015). Stillbirths occur in approximately 1 in 160 pregnancies in the United States and unknown causes remain the most common contributor (Wou et al., 2014). Neonatal death affects approximately 4 million babies worldwide out of the estimated 130 million infants born each year. The majority of  these deaths occur within the first week, with the first 24 hours being the most common time of loss (Jehan et al., 2009).