
Decoding Long QT Syndrome: Understanding, Diagnosing, and Utilizing Genetic Testing
Slow heart rates can set off the arrhythmias in this subtype; alongside ECG and DNA testing, stem-cell models are used to test whether a CACNA1C variant is harmful.

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.

Slow heart rates can set off the arrhythmias in this subtype; alongside ECG and DNA testing, stem-cell models are used to test whether a CACNA1C variant is harmful.

Enlarged adrenal glands with multiple nodules overproduce cortisol and cause Cushing syndrome; ARMC5 and KDM1A mutations and related meningioma risk are discussed.

Large platelets and a low platelet count raise bleeding risk in this disorder of the glycoprotein Ib-IX-V complex; genetic testing identifies GP1BB mutations.

Ambiguous genitalia with XY chromosomes defines male pseudohermaphroditism; causes include SRD5A2 mutations, testicular dysgenesis and prenatal exposures.

Discover the role of genetic testing in diagnosing and managing microprolactinoma, a pituitary tumor, by identifying risk factors, guiding treatment, and aiding in family planning.

Red cells visible only under a microscope may be benign or signal Alport syndrome or nephronophthisis; COL4A3, COL4A4, COL4A5 and NPHP1 testing tells them apart.

Discover the role of genetic testing in diagnosing Mucopolysaccharidosis Type II (MPS II), its importance in prenatal diagnosis, carrier testing, and newborn screening.

Early-onset seizures and developmental delay can trace back to STXBP1, KCNQ2, CDKL5, SCN1A and related genes, and the test chosen depends on the suspected cause.