
Genetic Causes of Death in Infancy: Testing Options
Infant mortality is driven partly by genetic disorders that go under-recorded; MCADD, GACI and the ENPP1 gene show how molecular autopsy and sequencing help.

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.

Infant mortality is driven partly by genetic disorders that go under-recorded; MCADD, GACI and the ENPP1 gene show how molecular autopsy and sequencing help.

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Variation in the MHC region shapes susceptibility to type 1 diabetes, while chemicals and the bacterium MAP have been studied as environmental triggers.

Polymorphism studies of IL-6 rs1800796, CDKAL1, GRB10 rs1800504 and TCF7L2 rs12255372 show which variants track with type 2 diabetes risk and which do not.

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Noncompaction of the left ventricular myocardium alongside dilated ventricles affects children and adults; echocardiography, MRI and DNA analysis help confirm it.

Cognitive decline with early psychiatric symptoms can begin as young as 40; the PSEN1 Thr119Ile mutation, an APP duplication and mild behavioral impairment are discussed.

HED affects sweat glands, hair and teeth, causing reduced sweating, missing teeth and sparse hair. Genetic testing can confirm it and identify carriers.