Distal Limb Shortening: PIEZO2 and Chromosome Tests
Shortened limbs may appear with joint contractures, muscle weakness, scoliosis and hypomagnesemia; chromosome analysis and PIEZO2 testing help pin down the cause.
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
Enzyme Activity Finding: A Comprehensive Guide
Discover the importance of enzyme activity finding in diagnosing health conditions, and learn how genetic testing aids in understanding, treatment, and family planning.
Decoding the Mysteries of Childhood Absence Epilepsy: Genetic Testing Unlocks the Answers
Brief staring spells in children aged 4 to 10 are easily mistaken for daydreaming; EEG, targeted re-sequencing and reported findings on perampanel are set out.
Unlocking the Mysteries of Exaggerated Startle Response: A Comprehensive Guide to Genetic Testing
Sudden stimuli trigger involuntary muscle contractions in hereditary hyperekplexia; SLC6A5 (GlyT2) testing confirms it and separates it from PCH2.
Ezetimibe Response: How Your Genes Affect the Drug
Cholesterol absorption is blocked by ezetimibe, yet responses differ between people; SNPs affecting how the drug is processed and the risk of side effects are explained.
Facial Hypotonia and the Genetic Conditions Behind It
Reduced muscle tone in the face affects swallowing, speech and expression, and often signals another disorder such as Phelan-McDermid syndrome or centronuclear myopathy.
HBFQTL1 and Fetal Hemoglobin Levels in Sickle Cell Disease
Variants near the HBS1L gene at 6q23 shape how much fetal hemoglobin adults make, and testing can inform hydroxyurea decisions in sickle cell disease.
Decoding the Mystery of Focal Cortical Dysplasia of Taylor Type 2B: Understanding, Diagnosing, and Genetic Testing
Dysmorphic neurons and balloon cells mark Taylor type 2B, a cortical malformation tied to drug-resistant epilepsy; MRI, histopathology and DNA testing are covered.