
What Causes Transient Neonatal Cyanosis in Newborns?
A newborn's bluish skin and mucous membranes usually reflect low blood oxygen and often resolve on their own; genetic testing is one route to an underlying cause.

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.

A newborn's bluish skin and mucous membranes usually reflect low blood oxygen and often resolve on their own; genetic testing is one route to an underlying cause.

Congenital hearing loss, lymphatic swelling and a raised leukemia risk form the DLLS triad, and next-generation sequencing can pinpoint the mutations behind it.

Serine production falters in this autosomal recessive disorder, causing seizures and cognitive problems; serine and glycine supplements are used in treatment.

Mutations in the actin-binding domain of the FLNC gene disrupt filamin C and weaken posterior leg and anterior hand muscles, which genetic testing can identify.

Progressive weakness and atrophy of the hands and feet, raised creatine kinase and reduced caveolin-3 mark this rare myopathy, usually diagnosed in adulthood.

Explore how genetic testing aids in early diagnosis and personalized care for DYRK1A-related intellectual disability syndrome, enhancing developmental outcomes.

RTEL1 joins the genes tied to telomere maintenance in this subtype, and confirming the mutation separates it from overlapping telomere biology disorders.

Nail dystrophy, pigmentation changes and oral leukoplakia can precede bone marrow failure; a novel RTEL1 mutation was reported in a Pakistani patient.