Understanding Congenital Heart Disease: Diagnosis and Genetic Testing
Murmurs or cyanosis may prompt echocardiography, chest X-ray, cardiac MRI and ECG; testing for GATA4, NKX2-5 and TBX5 mutations adds recurrence risk information.
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 Congenital Nystagmus
Involuntary rhythmic eye movements start at birth or in the first months and blur vision. SLC38A8 and PAX6 are implicated, and a saliva or blood sample can be tested.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Total Pulmonary Venous Return Anomaly
Pulmonary veins that drain into the right atrium instead of the left cause TAPVR; its four types, echocardiography and prenatal genetic testing are covered here.
Understanding, Diagnosing, and Using Genetic Testing for Craniofacial-Deafness-Hand Syndrome
Nasal bone hypoplasia, sensorineural deafness and limb abnormalities form the CDHS triad, traced to a missense mutation in the paired domain of the PAX3 gene.
Understanding, Diagnosing, and Using Genetic Testing for Diamond-Blackfan Anemia
Macrocytic anemia, low reticulocyte counts and thumb or heart anomalies point to Diamond-Blackfan anemia, confirmed by marrow biopsy and RPS19 or RPL5 testing.
Understanding, Diagnosing, and Using Genetic Testing for Diffuse Intrinsic Pontine Glioma
DIPG grows in the pons and mainly affects children aged 5 to 10. MRI and biopsy guide diagnosis, and H3K27M mutations are present in about 80% of cases.
Understanding, Diagnosing, and Using Genetic Testing for Duodenal Adenocarcinoma
Cancer of the glandular cells lining the duodenum often shows up late, with abdominal pain, weight loss and bleeding; endoscopy and biopsy confirm the diagnosis.
Epidermolysis Bullosa: Types, Diagnosis and Testing
Fragile skin that blisters after minor friction defines epidermolysis bullosa; covered here are its four types, skin biopsy, carrier screening and prenatal options.