
Decoding Dentin Dysplasia Type I: A Comprehensive Guide to Genetic Testing and Diagnosis
Discover Dentin Dysplasia Type I, a rare genetic dental disorder, and learn how genetic testing aids in diagnosis, carrier identification, and prenatal care.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.

Discover Dentin Dysplasia Type I, a rare genetic dental disorder, and learn how genetic testing aids in diagnosis, carrier identification, and prenatal care.

Also called Buschke-Ollendorff syndrome, this rare disorder pairs small yellow-brown skin nodules with osteopoikilosis bone lesions caused by LEMD3 mutations.

Findings on desmoplakin and a Rabphilin model inform DCM1T, where testing supports early diagnosis and family screening but raises interpretation and cost issues.

Trouble coordinating voluntary movements can follow cerebellar ataxia, multiple sclerosis, infection or toxin exposure; MRI and DNA testing help pin down a cause.

A waddling gait alongside joint pain and short stature points to MED 3; testing of COL9A3, COL9A1, COL9A2 and COMP can confirm it and flag relatives.

Alcohol and tobacco combine with inherited variation: GHR and PLCE1, SNPs at 2q33 and a p53-pathway locus have been linked to esophageal cancer risk in studies.

A chromosomal translocation creating the EWSR1-FLI1 fusion gene distinguishes this tumor from rhabdomyosarcoma and synovial sarcoma on biopsy and imaging.

Adaptation to physical exertion can fall short, with an abnormal heart rate response or raised inflammation; PKP2 and SCN5A findings and treadmill testing are reviewed.