Understanding, Diagnosing, and Using Genetic Testing for Brachydactyly Type A1
Middle finger bones stay short in Brachydactyly Type A1, an autosomal dominant condition that X-rays can suggest and IHH gene testing can confirm.
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 Brachydactyly Type A2
Explore how genetic testing aids in diagnosing Brachydactyly Type A2, a congenital condition affecting finger bones, and its implications for family planning and research.
Understanding, Diagnosing, and Using Genetic Testing for Brachydactyly Type B1
Changes in ROR2, a chromosome 9 gene guiding bone and cartilage growth, shorten the middle and distal phalanges in BDB1; a novel c.2257delT variant widens that picture.
Understanding, Diagnosing, and Using Genetic Testing for Brachydactyly Type C
Understand Brachydactyly Type C, its symptoms, diagnosis, and genetic testing. Learn how genetic testing aids in managing this rare hereditary condition effectively.
Understanding Brachydactyly Type D: Diagnosing and Utilizing Genetic Testing
Explore Brachydactyly Type D (BDD): symptoms, diagnosis via genetic testing, NOG gene mutations, family counseling, and future research in targeted therapies.
Understanding, Diagnosing, and Using Genetic Testing for Brachydactyly Type E1
Metacarpals and metatarsals develop short in Brachydactyly Type E1, inherited in an autosomal dominant pattern and confirmed by PTHLH testing on blood or a cheek swab.
Understanding, Diagnosing, and Using Genetic Testing for Brachyrachia (Short Spine Dysplasia)
Vertebral malformations cause the abnormally short spine of brachyrachia, reducing height and mobility. X-rays, CT, MRI and genetic testing support diagnosis.
Understanding, Diagnosing, and Using Genetic Testing for Branchiooculofacial Syndrome
Wide-set eyes, cleft lip or palate, microphthalmia, coloboma and neck cysts point to BOFS, an autosomal dominant condition confirmed by TFAP2A gene testing.