
Karyotyping and Sequencing Tests for PCST in Men
Next-generation sequencing, used alongside karyotyping, examines chromosome structure to confirm the trait in men whose infertility has no other explanation.

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.

Next-generation sequencing, used alongside karyotyping, examines chromosome structure to confirm the trait in men whose infertility has no other explanation.

Unexplained male infertility is the setting where this chromosome instability syndrome is usually found, since routine methods overlook the subtle anomalies.

Infertility testing sometimes turns up more than expected: this instability syndrome is linked with cancer predisposition, developmental delays and infertility.

Results are not always clear-cut: interpretation needs expertise, and privacy and genetic discrimination sit alongside the case for detecting the trait early.

Chromatids that part too early can leave cells with an abnormal number of chromosomes, a route to developmental problems and infertility that testing identifies.

Sperm production and function can be disrupted when chromatids separate ahead of schedule, one reason unexplained infertility leads to chromosome analysis.

Fertility clinics are where the trait most often surfaces, as in a case report describing its discovery during a male infertility diagnosis and the counseling given.

Grouped with the chromosome instability syndromes, the trait is linked to infertility, developmental delays and higher cancer risk, which shapes ongoing care.