Neuroblastoma Susceptibility: ALK and PHOX2B Gene Mutations
Inherited ALK mutations account for 1-2% of neuroblastoma cases and PHOX2B for about 4%; the page explains who may be offered testing and what results can inform.
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
Recessive Neuronal Ceroid-Lipofuscinosis: Choosing a Test
Single-gene tests, sequencing panels and exome or genome analysis answer different questions, and the result affects eligibility for enzyme and gene therapy trials.
Decoding NODAL-Related Disorders: A Guide to Genetic Testing
Mutations in NODAL disturb left-right axis formation and can cause congenital heart and gastrointestinal defects, though some results return as uncertain variants.
Nonsyndromic Hearing Loss, Dominant: How It Is Passed On
An affected parent has a 50% chance of passing NSHL-D to a child. Pure-tone and speech audiometry, tympanometry, gene testing and prenatal options are described.
Decoding the Silence: Understanding Nonsyndromic Hearing Loss, Mixed
Damage to both inner ear structures and the middle ear produces this mixed form of hearing loss. Audiometry, tympanometry, OAE testing and imaging are explained.
Decoding the Silence: A Comprehensive Guide to Nonsyndromic Hearing Loss, Recessive
Mutations in GJB2, the gene for connexin 26, are the most common cause of this recessive hearing loss. Targeted testing, NGS and whole exome sequencing are compared.
NPHP4-Related Disorders: Kidney and Eye Symptoms
The NPHP4 gene makes nephrocystin-4, a protein cilia depend on; when it fails, kidney cysts and retinal degeneration follow. Blood-based gene testing is explained.
NR2E3-Related Disorders: Retinal Signs and Testing
Night blindness, light sensitivity and gradual vision loss appear in Enhanced S-cone Syndrome, Goldmann-Favre Syndrome and adRP. ERG, OCT and DNA testing are covered.