Expert Insights Newsletter

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Epilepsy: How Next-Generation Genetic Testing Can Direct Therapy and Enhance Patient Care

Many types of epilepsy are associated with a genetic mutation, but determining the etiology of certain epilepsies remains a challenge. Dr. Scott Perry, Medical Director, Epilepsy Monitoring Unit, Cook Children's Health Care System, discusses how advances in genetic testing, including... Read more 

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BRCA Mutation Testing — Identifying Risk for Hereditary Breast and Ovarian Cancer

Compared to the general population, patients with a confirmed BRCA mutation have a significantly increased risk of developing cancer during their lifetime - up to an 85% risk of breast cancer, up to a 40% risk of ovarian cancer, and... Read more 

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Developmental Delay: Genetic Testing’s Role to Help Guide Diagnosis and Treatment

Causes of developmental delay are typically identified by a combination of observation, physical examination, assessment of family history and a range of diagnostic tests. For disorders of uncertain etiology, chromosomal microarray (CMA) testing provides clinicians with an additional diagnostic tool,... Read more 

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Vitamin D Testing — Increasing Accuracy, Improving Patient Management

The National Institutes of Health are in the process of establishing a standardized approach for vitamin D Testing. This promises to improve the detection, evaluation, and treatment of vitamin D deficiency and insufficiency by making measurements of serum total 25-hydroxyvitamin... Read more 

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A New Algorithm for HIV Laboratory Testing

The Centers for Disease Control and Prevention (CDC) has proposed a new algorithm for laboratory testing of human immunodeficiency virus (HIV) to replace the algorithm that has been recommended for over twenty years.1, 2 This is intended to address shortcomings... Read more 

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Sex Hormone Measurement: How Evolving Technology Has Improved Test Accuracy, Precision and Reproducibility

For endocrinologists, laboratory testing is critical for patient diagnosis and monitoring, and assays for sex hormone measurement are at the core of endocrine practice. While the limitations of traditional direct immunoassays have been widely documented, test methodologies based on mass... Read more