
Navigating Nevus Comedonicus Syndrome: Genetic Testing's Role in Diagnosis and Management
Grouped blackhead-like lesions define this rare skin disorder, reported alongside a NEK9 mutation, pulmonary airway malformation and vascular anomalies.

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.

Grouped blackhead-like lesions define this rare skin disorder, reported alongside a NEK9 mutation, pulmonary airway malformation and vascular anomalies.

Rare variants in SEC24D, a gene involved in protein transport within cells, influence how orofacial cleft 15 presents; testing supports earlier diagnosis.

Disordered bone remodeling leaves bone enlarged, misshapen and prone to fracture, often silently at first; ZNF687 mutations allow screening within affected families.

Cleft palate, widely spaced teeth, distinctive facial features and developmental delay define this rare syndrome, and sequencing can confirm it and clarify inheritance.

IKZF1 shapes lymphocyte development, and mutations in it can lower blood cell production, bringing fatigue, infections and bleeding that mimic other blood disorders.

When the ductus arteriosus fails to close after birth, infants risk heart failure and pulmonary hypertension; exome sequencing seeks candidate genes for PDA2.

Bleeding from minor injuries can reflect hyperactive platelets rather than von Willebrand disease, and GP1BA mutations altering the GPIba receptor define PTBD20.

Numerous benign liver cysts can bring abdominal pain and bloating; PLD2 is autosomal dominant, involves PRKCSH and SEC63, and often accompanies polycystic kidney disease.