Unlocking the Mystery of Abnormal Spermatogenesis: A Genetic Testing Approach
Sex chromosome aberrations are a main cause of spermatogenic failure, and NGS panels find pathogenic variants in oligozoospermia and cryptozoospermia.
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
Blood and Blood-Forming Tissue Abnormalities
Anemia, leukemia, clotting disorders and immune deficiencies arise in these tissues; DNA analysis can confirm a diagnosis and identify carriers.
TAR Syndrome: Absent Radius, Low Platelets, RBM8A
Absence of the radius bone together with a low platelet count defines TAR syndrome; RBM8A testing confirms it and supports prenatal diagnosis and carrier testing.
Decoding Acanthocytosis: Understanding, Diagnosing, and Genetic Testing
Irregular, spiked red blood cells appear alongside movement, swallowing and speech problems in chorea-acanthocytosis, linked to mutations in VPS13A.
Decoding Adrenal Hyperplasia: Understanding, Diagnosing, and the Role of Genetic Testing
Primary macronodular adrenal hyperplasia drives Cushing syndrome through multiple adrenal nodules; ARMC5 and KDM1A alterations explain part of it and guide monitoring.
Adult i Blood Group Phenotype and the GCNT2 Gene
A frameshift mutation in GCNT2 causes this rare blood group and congenital cataracts; blood typing and genetic testing confirm it and identify carriers.
Deciphering the Mysteries of Dutch Type Alpha-Thalassemia: Genetic Testing and Beyond
An ATRX mutation ties Dutch type alpha-thalassemia to anemia, intellectual disability, growth retardation and facial abnormalities, and DNA sequencing confirms it.
Decoding the Mysteries of Alpha-thalassemia/Intellectual Disability Syndrome
AT-ID syndrome follows ATRX gene mutations on the X chromosome, pairing anemia with intellectual disability, developmental delays and physical abnormalities.