Smith-Magenis Syndrome-like: RAI1 and 17p11.2 Testing
Overlapping features with Smith-Magenis syndrome make this disorder hard to identify; testing looks for RAI1 variants, including c.388C>T, and 17p11.2 deletions.
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 Genetic Testing for Spinal Muscular Atrophy, Dominant
Progressive muscle weakness and atrophy mark SMAD, which passes in a dominant pattern; EMG, nerve conduction studies and DNA sequencing all feature in diagnosis.
Demystifying Spinal Muscular Atrophy Lower Extremity-Predominant 2: A Guide to Understanding, Diagnosing, and Genetic Testing
Mutations in BICD2 impair motor neurons and weaken the lower limbs in SMALED2, an autosomal dominant condition that begins in childhood or adolescence.
Decoding Spinocerebellar Ataxia: Understanding the X-Linked Variant
Because the causative genes sit on the X chromosome, this ataxia subtype follows its own inheritance pattern; predictive and prenatal testing are explained.
TCTN2-Related Disorders: Unraveling the Genetic Mysteries
Developmental delays, intellectual disability and neurological problems can follow TCTN2 mutations; exome sequencing, gene panels or Sanger sequencing can pinpoint them.
Genetic Testing for Tyrosine Kinase Inhibitor Response
Response to TKIs differs from patient to patient. KIT testing in melanoma and LRRK2 G2019S in Parkinson's disease show how genotype guides these drugs.
Decoding the Genetic Mysteries of Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant
Case reports of novel COL6A2, COL6A3 and COL6A1 variants, several of them de novo, show how sequencing confirms UCMD where no family history exists.
Decoding the Mystery: Understanding, Diagnosing, and Using Genetic Testing for VATER/VACTERL Association with CNS Malformations
Arteriovenous fistulas and malformations of the brain and spine can accompany this association; RASA1 and somatic KRAS/BRAF findings point to pathway inhibitors.