
Understanding, Diagnosing, and Using Genetic Testing for Carpal Tunnel Syndrome
Compression of the median nerve at the wrist causes numbness, tingling and weakness. Tinel's sign, Phalen's maneuver, nerve conduction studies and EMG confirm it.

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.

Compression of the median nerve at the wrist causes numbness, tingling and weakness. Tinel's sign, Phalen's maneuver, nerve conduction studies and EMG confirm it.

Hereditary lens clouding can start at any age, including childhood. Visual acuity, slit-lamp and retinal exams find the cataract; DNA analysis names the mutation.

Lens clouding that appears in adulthood may be inherited or sporadic in Cataract 13. Slit-lamp exams, OCT and ultrasound biomicroscopy assess it before DNA testing.

Unlike age-related cataracts, Cataract 20 can appear in children and young adults through dominant or recessive inheritance. Eye exams plus DNA testing confirm it.

Onset in Cataract 30 can come far earlier than in age-related cataracts, sometimes in childhood. A blood or saliva sample is enough for the genetic test.

Inheritance is autosomal dominant in CTRCT4, so one copy from either parent is enough; family history matters as much as the slit-lamp exam when opacities appear.

Lens opacity tied to genetic mutations can appear from birth or later in life. Visual acuity, slit-lamp and retinal exams begin the workup before DNA analysis.

Family history carries weight in diagnosing CTRCT5, alongside the eye exam. Predictive testing shows who carries the mutation; carrier testing informs family plans.