
Understanding Uveal Melanoma: Diagnosis and the Role of Genetic Testing
The most common primary intraocular cancer in adults is found by ophthalmoscopy, ultrasonography and MRI; BAP1 and SF3B1 mutations carry different prognoses.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

The most common primary intraocular cancer in adults is found by ophthalmoscopy, ultrasonography and MRI; BAP1 and SF3B1 mutations carry different prognoses.

Blood clots in the veins show up as deep vein thrombosis or pulmonary embolism. Clinical assessment, imaging, D-dimer tests and PROS1 mutations are covered.

Urine flowing backward from the bladder can cause repeat urinary infections; VCUG, renal ultrasound and nuclear scintigraphy are the main diagnostic tests.

Navigate the complexities of vibratory urticaria, from symptoms and diagnosis to the role of genetic testing in treatment and family screening.

Shortness of breath and confusion can signal lungs that cannot move oxygen or clear carbon dioxide; blood gas tests and imaging confirm acute respiratory failure.

Absent or very low fibrinogen from mutations in FGA, FGB or FGG causes spontaneous bleeding and bruising; clotting assays and DNA testing establish the diagnosis.

MRI can show a missing or malformed corpus callosum, while nerve conduction studies and EMG assess the neuropathy behind the weakness, numbness and motor delays.

Failure of the neural tube to close leaves a baby's brain, skull and scalp unformed. Ultrasound, MSAFP and amniocentesis detect it; MTHFR is linked to higher risk.