Decoding the Mysteries of Heterotaxy Visceral 12: Genetic Testing for Diagnosis and Understanding
Inherited in an autosomal recessive pattern, this rare disorder misplaces chest and abdominal organs, and testing looks for DAND5 and GDF1 variants.
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
Unlocking the Mystery of Hydrocephalus due to Aqueductal Stenosis
Discover the importance of genetic testing in diagnosing and treating hydrocephalus due to aqueductal stenosis, and how it helps predict outcomes and manage complications.
Unlocking the Mysteries of Hypertriglyceridemia 2: The Power of Genetic Testing
Blood tests measure triglyceride levels, while sequencing of LPL, APOC2, APOA5, GPIHBP1, LMF1 and APOE shows whether hypertriglyceridemia 2 is inherited.
Primary Hypoalphalipoproteinemia 2: Low HDL Diagnosis
Reduced HDL cholesterol alone cannot confirm this rare disorder, since diet and inactivity lower it too; gene testing sets it apart from other conditions.
Hypoceruloplasminemia: CP Gene and Copper Buildup
Copper accumulates in the liver and brain when CP gene mutations cut ceruloplasmin, bringing movement problems, liver disease and anemia.
Decoding Hypokalemic Tubulopathy and Deafness: A Guide to Understanding, Diagnosing, and Genetic Testing
Potassium handling in the kidney and inner ear fails when KCNJ10 or KCNJ16 is altered, giving low potassium, salt wasting and sensorineural deafness.
Unlocking the Mysteries of IgA Nephropathy: Genetic Testing for Susceptibility and Progression
Genetic factors may raise IgA nephropathy risk: IL-23R and IL-17A polymorphisms, a familial CFHR3-1 hybrid gene and common alleles identified by GWAS.
Decoding the Mystery: Understanding and Diagnosing CASK-Related X-Linked Intellectual Disability
Males are mainly affected because CASK sits on the X chromosome, while females may carry the change without symptoms. Exome sequencing confirms diagnosis and carriers.