Decoding Familial Gastrointestinal Stromal Tumor: Genetic Testing for Diagnosis and Management
Germline KIT, PDGFRA or SDHA mutations set familial gastrointestinal stromal tumors apart from sporadic ones and can guide imatinib treatment.
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
Unlocking the Mysteries of Ghosal Hematodiaphyseal Syndrome: Genetic Testing and Treatment Options
Biallelic TBXAS1 variants cause this bone and blood disorder, with widened long bones, thickened skull and pancytopenia; one study reports a response to ibuprofen.
Unlocking the Mysteries of Glucose-6-Phosphate Transport Defect
SLC37A4 mutations leave the glucose-6-phosphate transporter unable to do its job, causing low blood sugar and liver enlargement in this autosomal recessive disorder.
Glutaric Acidemia Type 2 in Adults: Delayed Diagnosis
Adults with unexplained muscle weakness, exercise intolerance or repeated metabolic acidosis may go undiagnosed for years; gene testing can settle the diagnosis.
Unlocking the Mysteries of Glycogen Phosphorylase Kinase Deficiency
Sequencing PHKA1, PHKA2, PHKB and PHKG2 confirms which subtype of this glycogen storage disease is present, and identifies carriers for prenatal testing.
Unlocking the Mysteries of Juvenile GM2-Gangliosidosis: Genetic Testing and Beyond
Explore juvenile GM2-gangliosidosis diagnosis, genetic testing benefits, and recent research for better understanding of this rare neurological disorder.
Decoding GM2-Gangliosidosis, Variant B1: A Comprehensive Guide
A deficiency of beta-hexosaminidase B underlies variant B1; MRI, enzyme assays and HEXB analysis separate it from neurological disorders with similar symptoms.
Decoding Growth Hormone Deficiency with Pituitary Anomalies: The Role of Genetic Testing
Abnormal pituitary development can limit growth hormone alone or several hormones; TCF4 and AES findings and PSIS help decide who benefits from therapy.