Elevated Basal Serum Calcitonin: Causes and RET Testing
Raised calcitonin can point to medullary thyroid carcinoma or MEN2A, both tied to RET mutations; mast cell activation and KIT testing are also covered here.
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
Decoding the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia
Exome sequencing identifies the ITGA6 or ITGB4 mutation in EB-PA, where blistering occurs with a narrowed or closed pylorus; carrier and prenatal testing follow.
Decoding the Mystery of Early Infantile Epileptic Encephalopathy: A Guide to Understanding, Diagnosing, and Genetic Testing
Ohtahara syndrome brings seizures and developmental decline in the first months of life; EEG, MRI and testing of STXBP1, ARX, KCNQ2 and other genes follow.
Erlotinib Response: Genetic Testing in Cancer Care
Not every patient benefits from erlotinib, an EGFR inhibitor for non-small cell lung cancer; variants tied to response and to rash or diarrhea are examined.
Exertional Myalgia and Myoglobinuria: Causes and Tests
Muscle pain, stiffness and myoglobin in the urine after exertion may point to CPT II deficiency, McArdle's disease or a dystrophinopathy, each confirmed by gene testing.
Decoding the Mystery: Understanding Factor VII Marburg I Variant Thrombophilia
A G534E change in the FSAP gene has been tied to liver fibrosis in hepatitis C, carotid stenosis and factor VII deficiency; the limits of testing are also set out.
Unlocking the Mysteries of Familial Aortopathy: Understanding, Diagnosing, and Genetic Testing
Often seen alongside a bicuspid aortic valve, this inherited condition can lead to aortic aneurysm or dissection; NOTCH1 is the one candidate gene confirmed so far.
Decoding the Genetic Mysteries of Multifocal Fibromuscular Dysplasia
Narrowing of medium-sized arteries raises dissection and aneurysm risk; multifocal fibromuscular dysplasia has a complex genetic basis including a COL5A1 variant.