Understanding, Diagnosing, and Using Genetic Testing for Colonic Neoplasm
Changes in bowel habits, blood in the stool and weight loss may signal a colonic neoplasm. Colonoscopy confirms it; APC, MLH1, MSH2 or MUTYH testing shows 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
Understanding, Diagnosing, and Using Genetic Testing for Colorectal Adenoma
Most colon polyps stay benign, yet some turn cancerous. Colonoscopy, FOBT and sigmoidoscopy find them; APC, KRAS and TP53 testing gauges colorectal adenoma risk.
Understanding, Diagnosing, and Using Genetic Testing for Colorectal Cancer
Benign polyps can turn malignant before symptoms appear, so colonoscopy, FOBT and biopsy matter; mismatch repair testing identifies Lynch syndrome and shapes screening.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Diaphragmatic Hernia
An opening in the diaphragm lets abdominal organs crowd the chest and restrict lung growth in CDH, which ultrasound, fetal MRI and gene testing can identify.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Disorder of Glycosylation Type I
Transferrin isoelectric focusing and enzyme assays point toward CDG-I, while gene testing confirms the defect behind developmental delay, liver and clotting problems.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Disorder of Glycosylation Type II
Defects in the later stages of protein processing cause CDG-II. Clinical signs, transferrin isoelectric focusing and gene sequencing together confirm the subtype.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Dyserythropoietic Anemia, Type III
Autosomal dominant KIF23 mutations underlie CDA III, which brings anemia, jaundice and an enlarged spleen; blood counts, bone marrow findings and gene testing confirm it.
Congenital Generalized Lipodystrophy: AGPAT2 and BSCL2
Near-total absence of body fat from birth, with insulin resistance and early-onset diabetes, points to CGL; AGPAT2, BSCL2, CAV1 and PTRF are the genes usually sequenced.