How Distal Arthrogryposis Type 2B Is Confirmed
Overlapping features with other neuromuscular disorders make DA2B hard to pin down, so DNA analysis is what confirms it and supports prenatal diagnosis.
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
Unlocking the Mysteries of ARV1-Related Condition: A Comprehensive Guide
Biallelic ARV1 variants cause a developmental and epileptic encephalopathy with migrating focal seizures, myoclonic status and developmental delay.
Decoding Ataxia Neuropathy Spectrum Disorders: A Guide to Genetic Testing
POLG mutations disturb mitochondrial function, causing muscle weakness, sensory loss and balance problems across SANDO, ANS, MEMSA and arPEO.
Decoding Atypical Gaucher Disease: A Guide to Understanding, Diagnosing, and Genetic Testing
A shortage of glucocerebrosidase lets fatty glucocerebroside build up in organs. GBA gene results confirm the diagnosis and identify recessive carriers.
Hearing Impairment with Normal Menstrual Cycles: Testing
Sensorineural hearing loss that begins in childhood or adolescence, with menstrual cycles unaffected, marks this rare disorder whose exact cause remains unknown.
Unlocking the Mysteries of Autosomal Recessive Hypotrichosis with Woolly Hair
Discover the genetics behind autosomal recessive hypotrichosis with woolly hair (ARHWH) and how genetic testing aids in diagnosis, treatment options, and family planning.
Unraveling the Mysteries of Autosomal Recessive PIEZO2 Associated Disease
Muscle weakness, joint deformities, scoliosis and breathing problems can follow PIEZO2 mutations. Sequencing confirms diagnosis and supports carrier screening.
Unlocking the Mysteries of BAP1 Cancer Syndrome: Understanding, Diagnosing, and Genetic Testing
Mutations in the BAP1 gene raise the risk of uveal melanoma and malignant pleural mesothelioma; testing identifies carriers and supports surveillance and counseling.