
Self-Limiting Hypercalciuria in Children: Diagnosis
Excess calcium in a young child's urine usually settles on its own, yet can lead to kidney stones and bone demineralization; gene results guide monitoring and counseling.

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.

Excess calcium in a young child's urine usually settles on its own, yet can lead to kidney stones and bone demineralization; gene results guide monitoring and counseling.

On ultrasound, hyperechogenic kidneys look unusually bright, which can point to chronic kidney disease, focal segmental glomerulosclerosis or renal fibrosis.

Reduced cystathionine beta-synthase activity lets homocysteine build up, raising clot risk. CBS gene testing confirms the diagnosis and flags at-risk relatives.

Discover the role of genetic testing in diagnosing and treating hypoammonemia, a rare metabolic disorder. Learn about advancements in whole-genome sequencing and targeted…

Dry skin, eczema, blepharitis, photophobia and impaired sweating accompany the hair loss of Hypotrichosis 2, which is linked to a homozygous CST6 variant.

Proline, hydroxyproline and glycine spill into the urine when both SLC36A2 and SLC6A20 carry mutations; the condition is usually benign but can lead to kidney stones.

In MRXSA, a distinctive DNA methylation episignature has been reported alongside new CASK and ATRX variants that testing can detect to confirm a diagnosis.

Limited communication and a need for constant support mark the most severe form of intellectual disability. A de novo SMARCB1 variant is among the causes cited.