Immunodeficiency 26: Diagnosis and Genetic Testing
Recurrent infections, growth delays and chronic enteropathy can occur without neurologic signs. Chromosome microarray and RIPK1 findings help confirm a diagnosis.
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
Understanding, Diagnosing, and Using Genetic Testing for Immunodeficiency due to Defect in CD3-gamma
The CD3-gamma protein helps T-cells develop and work; blood counts, immunoglobulin levels and gene testing are combined to confirm a defect in it.
Increased Hepatic Glycogen Content: Causes and Testing
Glycogen builds up in liver cells in glycogen storage diseases and cirrhosis; liver biopsy and imaging confirm it, while gene testing supports carrier and prenatal work.
Unlocking the Mysteries of Infantile Encephalopathy: Genetic Testing for Diagnosis and Management
Seizures, developmental delay and cognitive impairment in infancy can trace to genes such as PIGK and CYFIP2, with epilepsy gene panels and array CGH used to find them.
John Milton Hagen Blood Group System: Genotyping
Antibodies against JMH antigens on red blood cells can trigger transfusion reactions and hemolytic disease; genotyping helps match compatible blood products.
Decoding Kininogen Deficiency: A Comprehensive Guide to Genetic Testing
Without low and high molecular weight kininogen, bruising and difficulty forming clots follow; KNG1 variants such as c.586C>T, p.Arg196* cause the deficiency.
Lactase Persistence: Genetic Variants and Diet
Whether the body keeps producing lactase traces to nucleotide variants in the lactase enhancer, and knowing your status can inform dairy choices.
Decoding the Enigma: Understanding and Diagnosing Leukemia, Megakaryoblastic, of Down Syndrome
GATA1 mutations, gene dosage imbalance and JAK-STAT changes drive leukemogenesis in Down syndrome, with transient abnormal myelopoiesis acting as a precursor state.