Congenital Heart Disease: CNVs and Cardiomyopathy
Rare copy number variations, which delete or duplicate stretches of DNA, contribute to CHD alongside environmental factors and inform prognosis and genetic counseling.
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
How Congenital Short Bowel Syndrome Is Diagnosed
Imaging and family history raise suspicion, and CLMP gene testing confirms congenital short bowel syndrome, opening the way to counseling and prenatal diagnosis.
Unlocking the Mystery of Conotruncal Defect: Genetic Testing and Beyond
Tetralogy of Fallot, double outlet right ventricle and transposition fall under conotruncal defect, linked here to 22q11.2 microdeletion and MED12 variants.
Decoding Coronal Craniosynostosis: A Comprehensive Guide to Understanding, Diagnosing, and Genetic Testing
Early fusion of the coronal suture can alter head shape and affect vision and development. Covers TCF12 findings, imaging tests and what genetic testing adds.
Coronary Sclerosis, Medial, of Infancy: Signs and Tests
Thickening of coronary artery walls in infants restricts blood flow and is often found only at autopsy. Imaging, genetic markers and counseling are discussed.
Decoding Cystine Urolithiasis: The Role of Genetic Testing in Diagnosis and Treatment
Recurrent cystine stones in the kidneys, ureters and bladder follow SLC3A1 or SLC7A9 variants that disrupt cystine reabsorption, inherited in a recessive pattern.
Decoding the Puzzle of Segmental Darier Disease: A Genetic Perspective
Patches follow a linear or zosteriform path because only some skin cells carry the ATP2A2 change, and dermoscopy plus biopsy support the segmental Darier diagnosis.
DFNB26 Hearing Loss: GJB2 Variants and Early Testing
Nonsyndromic sensorineural hearing loss without other symptoms marks DFNB26, and GJB2 screening can confirm it in newborns to guide early hearing aids or implants.