Understanding 8q24.3 Microdeletion Syndrome: The Role of Genetic Testing
Deletion at 8q24.3 is linked with intellectual disability and developmental delay, and exome sequencing flagged de novo variants in the PUF60 and NAA15 genes.
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
ADNP-Related Anomalies: Unlocking Genetic Mysteries with Testing
Mutations in the ADNP gene bring together intellectual disability, autism spectrum disorder and congenital anomalies; testing supports early intervention.
Age-Related Macular Degeneration 14: Understanding the Genetic Link
The rs10033900 variant near the complement factor I gene has been tied to AMD14 risk in the Han Chinese population, informing monitoring and genetic counseling.
Age-Related Macular Degeneration 15 Risk Testing
Central vision loss from ARMD15 affects reading and recognizing faces; genetic markers can flag higher risk and guide closer monitoring and dietary changes.
AHDC1-related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome: A Genetic Testing Perspective
Intellectual disability, obstructive sleep apnea, developmental delay and mild dysmorphic features overlap with other disorders, so AHDC1 testing settles the diagnosis.
Advancements in Understanding Aicardi-Goutières Syndrome 7: The Role of Genetic Testing
IFIH1 mutations drive the immune activation behind AGS7, which shows up in infancy or early childhood with developmental delay, neurological issues and skin changes.
Alacrima, Achalasia, and Intellectual Disability Syndrome: Unlocking Clarity through Genetic Testing
No tear production, swallowing difficulty and intellectual disability set this syndrome apart from Triple A syndrome, and DNA testing pinpoints the mutation involved.
Aldosterone-Producing Adenoma with Seizures and Neurological Abnormalities: Unraveling the Genetic Puzzle
Excess aldosterone raises blood pressure and can rarely come with seizures; KCNJ5, CACNA1D and ATP1A1 mutations separate hereditary from sporadic cases.