
Decoding the Mystery of Congenital Indifference to Pain
Discover the rare genetic disorder, Congenital Indifference to Pain, its diagnosis, and how genetic testing plays a crucial role in managing this life-threatening condition.

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.

Discover the rare genetic disorder, Congenital Indifference to Pain, its diagnosis, and how genetic testing plays a crucial role in managing this life-threatening condition.

Thickened palms and soles, corneal changes and hoarseness suggest CID-PH-LD; skin biopsy, laryngoscopy and RHBDF2 testing confirm this autosomal dominant syndrome.

Abnormal contraction of the coronary artery walls can cut blood flow to the heart. TGFβ and renin-angiotensin gene variants, OCT imaging and test uses are covered.

Also called vasospastic angina, CAS 2 is linked to variants including eNOS, KLF-14, MTHFR and FURIN rs17514846, with OCT imaging used to help identify a spasm.

Hearing loss here comes with developmental delay, intellectual disability or motor problems; audiometry, brain imaging and WFS1 testing aid diagnosis.

Adult height, birth dimensions, CYP24A1-related hypercalcemia and childhood cardiovascular risk are the factors reviewed, with what genetic testing can add.

Reduced ATP production leads to early-onset encephalopathy, lactic acidosis and myodegeneration; UQCRC1, LYRM7/MZM1L and PARL mutations are reported.

Clots in the deep leg veins can travel to the lungs. Factor V Leiden, MTHFR C677T and A1298C, and PAI-1 4G/5G are each tied to higher DVT risk.