Understanding, Diagnosing, and Using Genetic Testing for Branchiootorenal Syndrome 1
Ear pits, hearing loss, neck cysts or fistulas and kidney malformations mark BOR1; EYA1 testing confirms it and opens carrier, prenatal and preimplantation options.
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 Bullous Ichthyosiform Erythroderma
Red, inflamed skin and blistering from birth point to BIE, and mutations in the keratin genes KRT1 and KRT10 confirm it and inform prenatal or preimplantation testing.
Understanding, Diagnosing, and Using Genetic Testing for Burkitt Lymphoma
Explore genetic testing for Burkitt lymphoma, its role in diagnosis, prognosis, and treatment. Learn how identifying genetic mutations aids in managing this aggressive cancer.
Multiple Café au Lait Spots and Neurofibromatosis 1
Six or more spots larger than 5mm before puberty raise suspicion of NF1, so family history, physical examination, imaging and NF1 gene testing are used to confirm it.
Understanding Calvarial Doughnut Lesions-Bone Fragility Syndrome: From Diagnosis to Genetic Testing
Circular radiolucent areas in the skull and frequent fractures point to CDL-BFS, which passes on in an autosomal dominant pattern, so imaging and sequencing are combined.
Understanding, Diagnosing, and Using Genetic Testing for Camptomelic Dysplasia
Mutations in SOX9 disturb skeletal and reproductive development, producing bowed long bones, a small chest, hearing loss and ambiguous genitalia that X-rays help confirm.
Understanding, Diagnosing, and Using Genetic Testing for Cardiofaciocutaneous Syndrome 1
A RASopathy tied to BRAF, MAP2K1, MAP2K2 and KRAS, CFC1 brings heart defects, distinctive facial features, skin changes and developmental delay; NGS and WES confirm it.
Understanding, Diagnosing, and Using Genetic Testing for Familial Restrictive Cardiomyopathy 1
Stiffened heart muscle limits filling between beats, causing fatigue, breathlessness and palpitations; FRCM1 is autosomal dominant, so relatives can be tested too.