Collagen 6 Defects: From Muscle Biopsy to Gene Testing
Abnormal collagen 6 can cause muscle weakness, joint contractures and skin changes. Muscle biopsy, MRI, EMG and genetic testing are used to confirm the defect.
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 Silence: Understanding Rare Genetic Deafness
Usher, Pendred and Waardenburg syndromes are among the inherited causes of hearing loss. Audiometry plus targeted, exome or genome sequencing identifies the gene.
Decoding the Enigma: Understanding and Diagnosing Rare Genetic Intellectual Disabilities
Delayed milestones, learning difficulties and seizures can signal a rare genetic intellectual disability. Microarray, exome or genome testing looks for the mutation.
Decoding the Mystery: Understanding Rare Syndromic Intellectual Disability
Rett, Angelman and Fragile X syndromes combine intellectual impairment with physical features. Genetic testing covers diagnosis, carrier status and prenatal checks.
Ras Inhibitor Response: Mutation Testing in Cancer
Whether a tumor responds to Ras inhibitors depends partly on its mutations. DNA sequencing of Ras genes helps guide treatment choices and monitor progress.
Regorafenib Response: Genes That Affect Treatment
Patients differ in how they respond to regorafenib, used in colorectal cancer and other tumors. DNA testing can flag variants that affect how well the drug works.
Understanding Renier-Gabreels-Jasper Syndrome and the Role of Genetic Testing
Discover the benefits of genetic testing for Renier-Gabreels-Jasper Syndrome, a rare neurological disorder. Learn about diagnosis, carrier status, and personalized treatment…
Understanding, Diagnosing, and Using Genetic Testing for Recurrent Respiratory Infections and Failure to Thrive
When a child has frequent chest infections and poor growth, testing may point to DNAI1-related primary ciliary dyskinesia or CFTR-related cystic fibrosis as the cause.