Understanding Pallister-Hall Syndrome: Diagnosis and the Role of Genetic Testing
Polydactyly, hypothalamic hamartoma and imperforate anus are among its features; GLI3 analysis confirms Pallister-Hall syndrome and supports prenatal testing.
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 Paragangliomas 4
Headaches, palpitations and hypertension may or may not appear with these SDHC-linked tumors; a founder mutation has been traced in the French Canadian population.
Understanding, Diagnosing, and Using Genetic Testing for CARD9 Deficiency and Invasive Fungal Disease
CARD9 deficiency increases susceptibility to invasive fungal diseases. Genetic testing provides definitive diagnosis, personalized plans, and crucial family screening.
Understanding, Diagnosing, and Using Genetic Testing for Primary Failure of Tooth Eruption
Teeth that never emerge although nothing physically blocks them point to PFE; the page covers clinical and radiographic diagnosis and PTH1R gene testing.
Understanding Progressive Familial Heart Block, Type 1A: Diagnosis and Genetic Testing
Dizziness, fainting and palpitations prompt ECG and Holter monitoring; a pathogenic SCN5A variant confirms PFHB1A and steers pacemaker and family screening decisions.
Understanding, Diagnosing, and Using Genetic Testing for Renal Coloboma Syndrome
Mutations in the PAX2 gene disturb eye and kidney development in this autosomal dominant disorder, which is confirmed with clinical exams, imaging and DNA testing.
Understanding Schnyder Crystalline Corneal Dystrophy: Diagnosis and Genetic Testing
Genetic testing plays a crucial role in diagnosing Schnyder Crystalline Corneal Dystrophy (SCCD). Learn about SCCD symptoms, diagnosis, and how genetic testing can help.
Understanding, Diagnosing, and Using Genetic Testing for Seizures, Benign Familial Neonatal, 1
Seizures start in the first days of life and usually resolve within months. Targeted panels, whole exome or whole genome sequencing look for KCNQ2 and KCNQ3 variants.