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Progeria - Diagnosis

Medically Reviewed by Dr. Sunil Shroff, MBBS, MS, FRCS (UK), D. Urol (Lond) on Apr 19, 2013


Diagnosis

There are no specific tests to diagnose progeria. Identifying the disease often depends on inferences made from the physical appearance of the child within the first two years of birth, when changes begin to appear.


Genetic testing may also be carried out to detect mutations in the Lamin A gene in a progeria patient.

Recent research has revealed that elevated levels of hyaluronic acid can be detected in the urine of Progeria patients.

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