Understanding, Diagnosing, and Using Genetic Testing for Atrial Septal Defect 1
The NKX2-5 gene guides heart formation, and variants found in patients with ASD1 can explain a murmur, breathlessness or fatigue picked up on echocardiography.
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
Atrial Septal Defect 7: Signs, Tests and SPTB Finding
Breathlessness, fatigue and palpitations can point to ASD7; echocardiography and ECG start the workup, and sequencing revealed an SPTB mutation in one patient.
Understanding, Diagnosing, and Using Genetic Testing for Autosomal Dominant Deafness - Onychodystrophy Syndrome
Hearing loss beginning in childhood alongside malformed or discolored nails suggests AD-DOS. Audiometry, family history and DNA testing together confirm it.
Understanding, Diagnosing, and Using Genetic Testing for Autosomal Dominant Kenny-Caffey Syndrome
Autosomal Dominant Kenny-Caffey Syndrome, a rare genetic disorder, affects bone growth and development. Genetic testing is vital in diagnosis and management, ensuring effective…
Understanding, Diagnosing, and Using Genetic Testing for Autosomal Dominant Nonsyndromic Hearing Loss 1
Progressive sensorineural hearing loss with no other findings suggests DFNA1. Audiometry, family history and DIAPH1 testing are used together to confirm it.
Understanding, Diagnosing, and Using Genetic Testing for Autosomal Dominant Popliteal Pterygium Syndrome
Webbing behind the knees, cleft lip or palate, syndactyly and genital anomalies point to ADPPS. A blood sample or cheek swab is analysed for IRF6 mutations.
Understanding and Diagnosing Axenfeld-Rieger Anomaly with Genetic Testing
Anterior segment eye changes that can lead to glaucoma sit alongside a flattened midface, hydrocephaly and bone problems; PITX2 or FOXC1 testing confirms it.
Understanding, Diagnosing, and Using Genetic Testing for Basal Laminar Drusen
Yellowish deposits beneath the retinal pigment epithelium show up on fundus photography, OCT and fluorescein angiography, with complement system genes among the findings.