
Decoding Chronic Lung Disease: A Guide to Genetic Testing
COPD, idiopathic pulmonary fibrosis and lung cancer all fall under this heading, with research on the IL11 gene and the limits of genetic testing set out.

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.

COPD, idiopathic pulmonary fibrosis and lung cancer all fall under this heading, with research on the IL11 gene and the limits of genetic testing set out.

Fever-triggered seizures lasting over 15 minutes, recurring within 24 hours or affecting one side of the body are termed complex febrile seizures in children.

Abnormal vertebral development at birth produces congenital scoliosis. TBX6 and TBXT variants, exome sequencing findings and genetic counseling are explained.

Heart outflow defects with a small upturned nose and long face mark conotruncal anomaly face syndrome, and FISH detects the 22q11 deletion found in the cases studied.

Ten antigens sit on red blood cells as a result of CD55 gene variation, and testing that gene can clarify anemia, pregnancy complications or transfusion decisions.

Carnitine moves long-chain fatty acids into mitochondria, so low levels bring muscle weakness and fatigue; SLC22A5 mutations cause primary carnitine deficiency.

Bone development lagging behind chronological age can follow GH1 mutations or hormone imbalance; X-rays, hormone tests and gene analysis are used to assess it.

Difficulty with reading, spelling and writing affects 5-10% of people; markers such as 1q21.1 duplication have been tied to language dysfunction in dyslexia.