Carbamazepine Response: Genes That Affect Dosage
CYP3A4 variation changes how quickly the liver breaks down carbamazepine, while HLA-B*1502 is tied to serious skin reactions; pharmacogenetic testing checks both.
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 Mystery of Cardiac Valvular Dysplasia 2: Genetic Testing and Diagnosis
Filamin A, the protein made by FLNA, shapes the heart valves; when the gene is mutated, shortness of breath, chest pain, fatigue and palpitations can develop.
Understanding, Diagnosing, and Using Genetic Testing for Cardio-cutaneous Syndrome
LEOPARD syndrome, Carney complex and cutis laxa are grouped here as cardio-cutaneous disorders, assessed with echocardiogram, ECG, skin biopsy and gene testing.
Demystifying Tafazzin Gene Mutation Disorders: A Comprehensive Guide
The tafazzin gene supports mitochondrial structure, and mutations can lead to Barth syndrome with muscle weakness, growth delays and frequent infections.
Unlocking the Mysteries of Chronic Granulomatous Disease: A Guide to Diagnosis and Genetic Testing
A shortage of the p22-phox protein encoded by CYBA leaves phagocytes unable to clear bacteria and fungi; NBT, DHR and flow cytometry testing are described.
Understanding Chronic Granulomatous Disease due to Deficiency of NCF-1
Recurrent infections, persistent fever, weight loss and skin rashes prompt blood tests, imaging and assays, with NCF1 gene testing to confirm the cause.
Cleidocranial Dysplasia 1 with Brachydactyly: RUNX2 Tests
Bone and dental abnormalities with shortened fingers mark this milder form; targeted, sequence and deletion or duplication analysis of RUNX2 can confirm it.
Understanding, Diagnosing, and Using Genetic Testing for Cleidocranial Dysplasia 1, Forme Fruste, Dental Anomalies Only
Delayed tooth eruption, supernumerary teeth and malocclusion can occur without other CCD1 features; RUNX2 testing, its limits and privacy points are discussed.