
Shedding Light on Angiofibroma: Understanding, Diagnosing, and Using Genetic Testing
Discover the role of genetic testing in diagnosing Angiofibroma and TSC, guiding personalized treatment plans, and aiding family planning decisions.

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 the role of genetic testing in diagnosing Angiofibroma and TSC, guiding personalized treatment plans, and aiding family planning decisions.

Not every case traces to PAX6: a homozygous 11p13 deletion sparing the gene and its enhancers was reported, which is why broad genetic screening matters.

Cornea, iris and lens malformations with cataract are assessed by eye examination and imaging, while HMX1, FOXC1 and PAX6 are among the genes that may be tested.

A homozygous HSD11B2 mutation affects the enzyme balancing mineralocorticoids, producing low-renin hypertension, low potassium levels and metabolic alkalosis.

Reduced ARSA activity without disease marks the pseudodeficiency allele. Genetic testing separates it from metachromatic leukodystrophy and finds carriers.

Discover the role of genetic testing in diagnosing Arylsulfatase A pseudodeficiency, understanding its connection to metachromatic leukodystrophy & managing risks.

Most people with reduced arylsulfatase A activity have no symptoms, yet unusual variants are tied to metachromatic leukodystrophy, which testing detects.

Developmental delay, coarse facial features and skeletal changes follow AGA enzyme deficiency; targeted, exon or full gene sequencing confirms the Finnish type.