Pre-Biopsy Question

[Guest guest]

I have just received a list of the tests that will be performed on

my muscle biopsy, which is currently scheduled for Nov. 7. I wonder

if any of you can tell me if this sounds sufficient to you? Some

tests seem to indicate labs that they will be shipped out to. I

don't know if the other tests are being processed at Mass General or

elsewhere. I would greatly appreciate your feedback!! Here's the

list:

Test muscle biopsy for:

a. Light microscopy (LM)for routine and histochemical staining

including SDH, COX.

b. Electron microscopy (EM)

c. Frozen sample for electron transpot chain (ETC) enzyme analysis

and carnitine (free, total, and esterified) and acylcarnitines;

--Center for Inherited Disorders of Energy Metabolism, Dr. Hoeppel

d. Coenzyme Q10 measurement -- UCSD Biochemical Genetics Laboratory

e. Please save 2 extra pieces of muscle frozen for future studies

Test skin biopsy for:

a. Electron microscopy (EM)

b. Fibroblasts culture to Genzyme Genetics for:

--(1) lactate/pyruvate measurements sent to: Dr. ,

Hospital for Sick Children, Toronto

--(2) PDH/PC testing to: Center for Inherited Disorders of Energy

Metabolism.

Well, that's the list. Good enough? Some of it is a bit mysterious

to me. (Do any of these test for the famous ragged red fibers?)

Thanks in advance to anyone who tries to help with this!

Cheers,

Shayna