Their presentations were quite different, but the two patients shared one thing in common: iron overload. Both ended up in ...

“Diagnosing Gaucher disease typically involves a combination of clinical evaluation, family history, and laboratory tests. A blood test to measure glucocerebrosidase enzyme activity is crucial in ...

In a UK first, researchers in Manchester are successfully identifying patients in the early, curable stages of a common liver ...

Several people went home with a test tube of their own DNA ... genotyped herself to see if she carried the gene for hemochromatosis, which afflicts her father. Computer programmer Meredith ...

These include checking for underlying conditions and blood tests for low iron or iron storage problems like hemochromatosis ... koilonychia can often be reversed unless it is genetic. If you are at ...

Based on the findings, the provider may order a battery of lab tests and procedures ... 2018.06.010 Kane SF, Roberts C, Paulus R. Hereditary hemochromatosis: rapid evidence review. Am Fam Physician.

With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...