Hypertrophic Cardiomyopathy 2: ECG, MRI and DNA Tests
Echocardiography, cardiac MRI and an ECG reveal the thickened muscle of HCM2, while DNA testing confirms the mutation and screens relatives.
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
Hypertrophic Cardiomyopathy: MYH7, MYBPC3, TNNT2
Sarcomere genes including MYH7, MYBPC3 and TNNT2 can confirm this condition when echocardiography and cardiac MRI leave the diagnosis open.
Understanding, Diagnosing, and Using Genetic Testing for Infantile Cortical Hyperostosis
Fever, irritability and tender swelling over the mandible, clavicle and long bones point to Caffey Disease; COL1A1 testing can confirm it and flag a severe course.
Understanding, Diagnosing, and Genetic Testing for Inherited Creutzfeldt-Jakob Disease
An autosomal dominant PRNP mutation drives this prion disease, with memory loss and coordination problems in midlife; MRI, CSF 14-3-3 and gene testing aid diagnosis.
Understanding, Diagnosing, and Genetic Testing for Isolated Cleft Palate
An opening in the roof of the mouth that forms without a cleft lip affects feeding and speech; newborn exam, prenatal ultrasound and gene testing are explained.
Understanding, Diagnosing, and Using Genetic Testing for Isolated Congenital Digital Clubbing
Bulbous fingertips and increased nail curvature present at birth, with no lung or heart disease behind them; ICDC can run in an autosomal dominant pattern.
Understanding, Diagnosing, and Genetic Testing for Isolated Cryptophthalmia
Eyelids that never form leave skin covering the eye from birth; clinical exam, ultrasound and MRI assess the eye, while OTX2, SOX2 and RAX testing can confirm it.
Understanding Jackson-Weiss Syndrome: Diagnosis and Genetic Testing
Premature skull bone fusion and broad, deviated great toes point to this FGFR2-related disorder, assessed through clinical exams, imaging and gene testing.