Unlocking the Mysteries of Long QT Syndrome 2/9: A Comprehensive Guide to Genetic Testing
Only a few cases of this digenic form have been reported; confirming it calls for mutations in both KCNH2 and SCN5A, usually identified from a blood sample.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Understanding, Diagnosing, and Using Genetic Testing for Retinal Macular Dystrophy 4
Vision usually declines from childhood or adolescence in RMD4; dilated eye exams, OCT and genetic testing separate it from other macular dystrophies.
Macular Dystrophy, Retinal 5: Symptoms and PRPH2 Gene
Faulty peripherin 2 from a PRPH2 mutation degrades photoreceptors, bringing night blindness, vision loss and dyschromatopsia; the trait is autosomal dominant.
Deciphering the Code: Understanding Marfanoid Habitus and Intellectual Disability
Long limbs, joint hypermobility and a tall, thin build (marfanoid habitus) occur with intellectual disability in this disorder; genetic testing can confirm it.
Understanding, Diagnosing, and Using Genetic Testing for MBD5 Associated Neurodevelopmental Disorder
Intellectual disability, seizures, sleep problems and autism features mark MAND; chromosomal microarray, targeted sequencing or exome sequencing finds the MBD5 change.
Understanding, Diagnosing, and Using Genetic Testing for MEN2 Phenotype: Unclassified
Cases fitting neither MEN2A, MEN2B nor FMTC fall into this group; RET proto-oncogene testing confirms the autosomal dominant disorder and finds at-risk relatives.
Methotrexate Response: Genetic Variants and Efficacy
Single nucleotide polymorphisms can change how the body handles methotrexate, a drug used in rheumatoid arthritis, psoriasis and some cancers.
Understanding, Diagnosing, and Using Genetic Testing for Mitochondrial DNA Depletion Syndrome 16A
MPV17 mutations lower mitochondrial DNA in the liver and brain, producing failure to thrive, seizures, hypotonia, ataxia and liver dysfunction early in childhood.