
Solving the Mystery of Sick Sinus Syndrome 3: The Genetic Testing Revolution
When the heart's natural pacemaker falters, rhythms swing between slow and fast; a zebrafish screen tied the Dnajb6 gene to susceptibility to sick sinus syndrome 3.

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.

When the heart's natural pacemaker falters, rhythms swing between slow and fast; a zebrafish screen tied the Dnajb6 gene to susceptibility to sick sinus syndrome 3.

Both parents must pass on the altered gene for SPG52, in which a homozygous COQ7 variant underlies progressive stiffness and weakness of the lower limbs.

Karyotyping on a blood sample can detect the chromosomal defects and Y chromosome microdeletions behind SPGF8, where sperm is absent or the count is very low.

Where conventional methods miss small deletions, array comparative genomic hybridization and karyotyping can reveal the chromosomal changes behind SPGF9 infertility.

Movement, balance and coordination worsen over time in SCA36; physical and speech therapy, genetic counseling, and the cost and reach of testing are all covered.

Rarer than other forms, Stickler Syndrome Type 4 shares eye, hearing and joint problems with them; testing for COL2A1 changes helps distinguish the types.

Sequencing genes such as COL2A1 can confirm Stickler Syndrome Type 5, distinguish it from other types and inform genetic counseling for affected families.

Easy bruising, frequent nosebleeds and prolonged bleeding follow impaired platelet aggregation. TBXAS1 testing confirms this autosomal recessive disorder.