
Blood Group ER: Rare Antigens and Genetic Testing
Specific antigens on red blood cells mark this rare group, whose cause the page calls unknown. Blood typing, carrier and predictive testing and PGD are described.

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.

Specific antigens on red blood cells mark this rare group, whose cause the page calls unknown. Blood typing, carrier and predictive testing and PGD are described.

Intellectual disability, developmental delay, seizures and distinctive facial features vary widely in Braddock-Carey Syndrome 2, which genetic testing can confirm.

Overlapping with cystic fibrosis and primary ciliary dyskinesia, BESC1M is sorted out with CT imaging, sweat chloride tests and gene sequencing, plus prenatal options.

Missing C1q leaves the complement system unable to clear pathogens, raising the risk of infection, autoimmune disease and lupus; C1QA, C1QB or C1QC results confirm it.

Recurrent respiratory and urinary infections, joint pain and rashes prompt complement and C1q level tests, with C1QA, C1QB or C1QC sequencing used to screen relatives.

Doughnut-shaped skull lesions and fragile bones can come with headaches, seizures and developmental delay, so X-rays, CT scans and DNA testing are combined to confirm it.

Hair loss, nail changes, thickened skin and a raised cancer risk trace back to FAM111B mutations, and because signs vary so widely, sequencing is what confirms CAPKOD.

Discover the importance of genetic testing in predicting captopril response for high blood pressure treatment, optimizing dosing, and minimizing side effects.