Waardenburg Wisdom: Navigating Genetic Testing for Waardenburg Syndrome Type 2A
Sensorineural hearing loss present at birth, plus patchy depigmentation of skin, hair and eyes, marks type 2A; MITF testing confirms it and clarifies family risk.
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
Premature Chromatid Separation Trait: Hereditary Risks
Early separation of chromatids destabilizes chromosomes and is linked to reproductive difficulty and higher cancer risk; testing confirms the trait in a family.
Premature Chromatid Separation: PCS Testing in Infertility
When a fertility work-up finds no clear cause, chromosome analysis may show sister chromatids parting at metaphase, pointing to PCS as the underlying reason.
Premature Chromatid Separation Trait and Male Infertility
There is no cure for the trait, so testing is used to explain otherwise unexplained male infertility, shape fertility care and describe the risk to relatives.
Premature Chromatid Separation Trait Found on Karyotype
Karyotyping, which examines the number and structure of chromosomes, is how the trait is usually spotted, and results guide counseling on passing it to children.
Is PCS Trait Inherited? Testing and Reproductive Options
Because the trait can run in families, couples are offered preimplantation genetic diagnosis or IVF with donor gametes once early chromatid separation is found.
Diagnosing Premature Chromatid Separation Trait in Men
Standard diagnostic methods often miss the subtle chromosomal changes involved, so specific genetic markers are used; a male infertility case shows the process.
PCS Trait, Cancer Risk and Developmental Delay
Cells that divide with chromatids already separated can lead to infertility, developmental delays and raised cancer risk, so a confirmed result brings monitoring.