Cracking the Code: Understanding and Diagnosing Digenic Coproporphyria
Heme production falters when two mutations interact in the digenic form of coproporphyria; porphyrin levels and DNA analysis confirm it and guide prenatal 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 Cystic Parathyroid Adenoma: Diagnosis and Genetic Testing
Raised blood calcium and bone disease can signal cystic parathyroid adenoma; PTH measurement, fine-needle aspiration washout and imaging help identify it.
Decoding the Genetic Puzzle: Understanding and Diagnosing Mitochondrial Deafness
Mutations in mitochondrial DNA can cause hearing loss. The page covers the m.1555A>G variant, the SSBP1 and TRMU genes, and newborn genome sequencing.
Deciphering the Code: Understanding, Diagnosing, and Using Genetic Testing for Deafness, Neurosensory Autosomal Recessive 21
Non-syndromic hearing loss linked to TMIE, DFNB1 and GPSM2 mutations, with notes on carrier screening, genetic counseling and family planning options.
Decoding Deafness in Smith-Magenis Syndrome: A Comprehensive Guide
A 17p11.2 deletion or an RAI1 variant causes SMS, which can include hearing loss; karyotyping, FISH, RAI1 sequencing and aCGH are used to confirm it.
Unlocking the Mysteries of Mitochondrial Complex IV Deficiency: A Guide to Understanding, Diagnosing, and Genetic Testing for the Disease
Also called cytochrome c oxidase (COX) deficiency, it is tied to COX6B1 and CMC1 mutations and can involve encephalomyopathy, hydrocephalus and cardiomyopathy.
Decoding Noninsulin-Dependent Diabetes Mellitus with Acanthosis Nigricans and Hypertension: A Comprehensive Guide
Insulin receptor mutations and a PPARγ variant causing FPLD3 have been linked to this mix of type 2 diabetes, darkened skin folds and high blood pressure.
Noninsulin-Dependent Diabetes: Genes and Risk Tests
Gene polymorphisms and diet both shape noninsulin-dependent diabetes; testing can flag raised risk, confirm atypical presentations and help tailor treatment.