
Cracking the Code: Genetic Testing for Complement Component 4b Deficiency
Impaired opsonization leaves pathogens poorly cleared when the C4B gene is faulty, and sequencing that gene separates this deficiency from similar immune disorders.

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.

Impaired opsonization leaves pathogens poorly cleared when the C4B gene is faulty, and sequencing that gene separates this deficiency from similar immune disorders.

Seizures, intellectual disability and developmental delays mark CDCBM5, a rare disorder of cortical development; genetic testing supports diagnosis and counseling.

A TUBB gene variant found in a child with CDCBM6 expanded what is known about this rare malformation, which brings epilepsy and developmental delay.

Trouble seeing in low light that progresses to loss of color and central vision points to CRD16, where CFAP410 mutations help confirm the diagnosis.

Cataracts at birth, hearing loss, hypotonia and severe developmental delay occur together in this rare syndrome, with low serum copper and ceruloplasmin also reported.

Severe diarrhea from the newborn period, failure to thrive and lifelong nutritional support mark CD6, which has been linked to mutations in the EPCAM gene.

Mutations in the ALG1 gene cause CDG-Ir, with developmental delays, neurological issues and metabolic abnormalities. Testing supports early diagnosis and counseling.

Structural heart problems present at birth define this form, which one study tied to a novel ZIC3 mutation in a Chinese family; prenatal DNA testing can detect it early.