
Decoding the Enigma: Congenital Lactic Acidosis
Discover how genetic testing aids in diagnosing congenital lactic acidosis, a rare metabolic disorder, and its role in developing targeted treatment plans for better patient…

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.

Discover how genetic testing aids in diagnosing congenital lactic acidosis, a rare metabolic disorder, and its role in developing targeted treatment plans for better patient…

Dust-like opacities in the lens cortex can blur vision. CRYBB1, CRYBB2 and BFSP2 mutations, slit-lamp exams and OCT are described alongside genetic testing.

Infants with this form show premature fusion of the skull bones; the page sets out how susceptibility markers, prenatal and postnatal screening are approached.

Discover the importance of understanding and diagnosing decreased activity of mitochondrial ATP synthase complex, and how genetic testing plays a vital role in early detection and…

Antibodies made by B cells can fall through genetic mutations, nutritional deficiency or medication; immunoglobulin blood tests and DNA analysis are covered.

A shortfall in the IgG2 subclass of immunoglobulins raises susceptibility to encapsulated bacteria; immunoglobulin levels and DNA analysis point to causes.

Without enough G6PD, red blood cells are open to oxidative damage, bringing anemia and jaundice; testing also flags medications that can trigger hemolysis.

DNA repair depends on RAD51D, and a deleterious variant raises hereditary breast and ovarian cancer risk; sequencing and splicing tests classify such variants.