What Genetic Testing Confirms in ICF3 Syndrome
Immunodeficiency, centromeric instability and distinctive facial anomalies define ICF3; sequencing ZBTB24 and related genes supports earlier intervention.
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
ICF4 Syndrome: Signs, Testing and Family Planning
Compromised immune function, chromosomal instability and facial anomalies appear together in ICF4, and DNA analysis can confirm it before all signs emerge.
Inherited Oocyte Maturation Defect: Unraveling the Genetic Knot of Infertility
A homozygous splice site mutation in ZP1 can disrupt the zona pellucida so oocytes fail to mature, and testing for it informs diagnosis and family planning.
Understanding Intellectual Disability, Autosomal Dominant 41: The Role of Genetic Testing
Both before and after birth, testing for SETBP1 variants can explain developmental delay in ID-AD 41, with counseling covering inheritance and recurrence risk.
Illuminating Insights: Genetic Testing for Intellectual Disability, Autosomal Dominant 42
Pathogenic SETBP1 variants underlie the developmental delay and cognitive impairment of ID-AD42; prenatal testing and preimplantation diagnosis are among the options.
Insight into Intellectual Disability, Autosomal Dominant 43: The Role of Genetic Testing
SETBP1, on chromosome 18, makes a protein that regulates gene expression for brain development; mutations disrupt that process, and testing can confirm IDAD43 early.
IDAR51: What Genetic Testing Can and Cannot Show
Symptoms of IDAR51 appear early in life and follow a recessive pattern. Sequencing can name the mutation, though interpreting the results calls for specialist expertise.
Investigating Intellectual Disability, Autosomal Recessive 52: The Role of Genetic Testing
Childhood-onset limits in learning, communication and daily activities mark IDAR52. Carrier testing clarifies risk when symptoms alone are inconclusive.