Understanding, Diagnosing, and Using Genetic Testing for Leber Congenital Amaurosis
Nystagmus, sluggish pupillary responses and a reduced ERG point to this inherited retinal dystrophy, with over 25 genes involved, including CRX.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Understanding, Diagnosing, and Using Genetic Testing for Leukemoid Reaction
Elevated white blood cells might signal leukemoid reaction or leukemia. Learn about leukemoid reaction, diagnosis, and the role of genetic testing for precise treatment.
Understanding, Diagnosing, and Using Genetic Testing for Lhermitte-Duclos Disease
Abnormal ganglion cell growth enlarges the cerebellar folia and raises intracranial pressure; MRI shows a tiger-striped pattern and PTEN links it to Cowden syndrome.
Understanding, Diagnosing, and Using Genetic Testing for Lipodystrophy
When the body cannot build or keep healthy fat tissue, insulin resistance and high triglycerides often follow; LMNA, PPARG, AGPAT2 and BSCL2 are genes linked to it.
Understanding, Diagnosing, and Using Genetic Testing for Lipoid Nephrosis
Protein in the urine and swelling around the eyes and legs point to lipoid nephrosis; urine and blood tests, biopsy and genetic testing are covered.
Understanding, Diagnosing, and Using Genetic Testing for Lung Carcinoid Tumor
Neuroendocrine tumors of the lung fall into typical and atypical forms; symptoms, imaging, biopsy and MEN1, TP53 and ATRX mutations found on tumor testing are covered.
Understanding Lynch Syndrome: Diagnosis and the Role of Genetic Testing
Family history criteria, colonoscopy and MSI testing precede a blood test for MLH1, MSH2, MSH6, PMS2 and EPCAM mutations linked to colorectal and endometrial cancer.
Understanding Malignant Peritoneal Mesothelioma: Diagnosis and the Role of Genetic Testing
Asbestos exposure is the usual background to this cancer of the abdominal lining, which brings pain, swelling and weight loss; BAP1 findings help confirm it.