8 doctors weighed in:

What testing should my child undergo for suspected mitochondrial disease? 

8 doctors weighed in
Dr. Robert Kwok
Pediatrics
5 doctors agree

In brief: Consult a specialist

Mitochondrial diseases are quite complicated and best evaluated at a specialized research center or a university medical center. The united mitochondrial disease foundation website (www.
Umdf.Org) lists several types of blood and urine tests, heart echo (ultrasound), brain mri, eye and audiology exams, heart ekg, spinal fluid tests, chromosome tests, muscle biopsy, etc... As possible test choices.

In brief: Consult a specialist

Mitochondrial diseases are quite complicated and best evaluated at a specialized research center or a university medical center. The united mitochondrial disease foundation website (www.
Umdf.Org) lists several types of blood and urine tests, heart echo (ultrasound), brain mri, eye and audiology exams, heart ekg, spinal fluid tests, chromosome tests, muscle biopsy, etc... As possible test choices.
Dr. Robert Kwok
Dr. Robert Kwok
Thank
1 comment
Dr. Sahba Ferdowsi
great answer!
Dr. James Ferguson
Pediatrics
1 doctor agrees

In brief: Skin biopsy

There are a few research labs located around the country that will do the specialized testing needed for diagnosis.
Often they need a sample of tissue to analyze the mitochondria within. This can be worked out through your local provider or specialty center.

In brief: Skin biopsy

There are a few research labs located around the country that will do the specialized testing needed for diagnosis.
Often they need a sample of tissue to analyze the mitochondria within. This can be worked out through your local provider or specialty center.
Dr. James Ferguson
Dr. James Ferguson
Thank
Read more answers from doctors