There is no diagnostic test, that confirms progeria, but doctors make diagnosis, based on signs and symptoms like dwarfism, hair loss, fragility, lack of eye lashes and so on, which are not fully evident till the child is at least two years old. It’s however possible to use genetic testing for LMNA mutations at first suspicion of Progeria,, with the discovery of the genetic mutation that causes Progeria. Earlier the identification of Progeria in a child, the sooner, the doctor could provide treatments, to reduce the signs and symptoms of the disorder.
Low levels of high-density lipoprotein (HDL) cholesterol, also called good cholesterol, that keeps arteries open, can be revealed in a child, through a blood test. This is however not a diagnostic by itself, but will lend support to the diagnosis of Progeria.
Diagnosis can be done based on signs and symptoms, by blood tests revealing, low level of High Density Lipoprotein (HDL), by conducting genetic tests. Stroke or heart attack can be prevented, if the diagnosis is done earlier.
Making a diagnosis of progeria includes taking a thorough personal and family history, including symptoms, such as poor growth and weight gain, and completing a physical examination. Failure to thrive and hair loss are the two most basic typical symptoms, which can be used for diagnosis.
Testing might be done to help in making a diagnosis of progeria and to assess for the potential for developing atherosclerosis during early childhood, a typical characteristic of progeria. Testing might include a HDL blood test, which can reveal a low level of high-density lipoprotein (HDL) cholesterol, the "good" cholesterol that helps keep arteries open.
It is possible that a diagnosis of progeria can be missed or delayed because it is extremely rare.