Charcot-Marie-Tooth Axonal Type 2N: MT-ATP6 Testing
The m.9185T>C change in MT-ATP6 has been identified as a cause of this axonal neuropathy, so testing can confirm CMT2N and guide genetic counseling.
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
Challenging Choroidal Dystrophy: Central Areolar 2 and the Role of Genetic Testing
Progressive degeneration of the choroid beneath the macula gradually reduces central vision in CACD2, which is caused by mutations in the PRPH2 gene.
Cracking the Code of CLAPO Syndrome: The Role of Genetic Testing
Capillary malformation, lymphatic malformation, asymmetry and overgrowth appear at birth or in early childhood; testing and counseling roles are described.
Cracking the Code: Genetic Testing in Combined Immunodeficiency with Faciooculoskeletal Anomalies
Immune dysfunction pairs with facial, eye and skeletal anomalies in CIFSA, where overlapping signs make diagnosis hard and gene testing helps confirm the syndrome.
Combined Pituitary Hormone Deficiencies: Genetic Form
Too little output of several pituitary hormones defines the genetic form of CPHD, seen as growth retardation in children and fatigue or metabolic problems in adults.
Cracking the Code: Genetic Testing and Cone Dystrophy 4
Photophobia, reduced acuity and color vision defects define Cone Dystrophy 4; a homozygous POC1B variant was reported in one Pakistani family.
Cracking the Code: Understanding Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Reduced respiratory chain activity underlies this mitochondrial myopathy, in which congenital cataracts, hypotonia, hearing loss and developmental delay appear.
Cracking the Code: Understanding Congenital Diarrhea 5 with Tufting Enteropathy
Abnormal tufting of the intestinal lining blocks absorption, so diarrhea starts within weeks of birth and resists diet changes; testing can confirm CD5-TE.