
Juvenile-Onset Psychosis: Diagnosis and Genetic Risk
Hallucinations, delusions and disorganized thinking in children and teens call for careful differential diagnosis; testing may inform medication choices.

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.

Hallucinations, delusions and disorganized thinking in children and teens call for careful differential diagnosis; testing may inform medication choices.

Seizures, developmental delays and intellectual disability characterize these rare KCNT2 disorders, where the variant found guides treatment and prognosis.

Case reports covering MTHFR deficiency, Alexander disease with GFAP mutations, LMNB1 duplication and an AARS2 mutation show how DNA analysis pins down the subtype.

A single R133L change in LMNA has been reported alongside generalized lipoatrophy, insulin-resistant diabetes, fatty liver, thickened heart muscle and skin papules.

Mutations in NBN impair nibrin and DNA repair, causing microcephaly, immunodeficiency and recurrent respiratory infections; diagnosis and carrier testing are explained.

Many cases of azoospermia have no obvious cause, so sequencing looks for variants such as an MSH4 stop-gain mutation or DDX3Y changes in the AZFa region.

Y chromosome microdeletions in AZF genes, Nphp1 and a mir-34 b/c polymorphism are linked to faulty sperm production, and PGD or carrier screening can follow.

When the in vitro contracture test with halothane and caffeine returns an equivocal result, 4-CmC and RYR1 gene analysis can sharpen the diagnosis.