Genetic Disorders

Acute hepatic porphyria attacks are associated with several painful symptoms. Think you know the most common one? Take the quiz to find out!

Nephropathic cystinosis is a rare disease that may lead to the development of other diseases and complications in patients. Do you know some of the complications that can develop in patients due to...

Does every patient with the genetic mutation for acute hepatic porphyria experience symptoms? Take this pop quiz to find out!

Have you treated patients with acute hepatic porphyria in your practice? Let us know your experience with this rare genetic disorder by taking the poll!

Do you know which patient population is most likely to have an acute hepatic porphyrias attack? Take the quiz and find out!

There are four types of acute hepatic porphyria, but one type is significantly more common than the others. Are you familiar with the most common type of acute hepatic porphyria? Take this pop quiz to test...

Epilepsy is often genetic and can be passed on to children. Do you believe genetic testing has a role in epilepsy management? Take our poll to voice your opinion!

As a genetic disorder, Fabry disease is caused by variants in a specific gene. Do you know which gene is affected?

Do you know which conditions are associated with autoimmune polyendocrine syndrome (APS) type 2 and which tests are useful in the diagnosis and management of APS type 2? Test your knowledge with this pop...

A 2-year-old boy presents with his parents to a pediatric clinic. He had previously been diagnosed with hypospadias. His parents explain that he has been showing symptoms of troubled breathing, excessive...