SUBJECT: CPTII Deficiency
MESSAGE: My sister in Texas was just diagnosed with CPTII deficiency today.  We do not yet know which variant.  I was told a year ago following her near death from rhabdo (CK's 150,000+), ATN, RF, respiratory compromise, to be tested for a FA metabolic error.  Until today, I really had no idea which test to request.  Her muscle bx was performed a few months ago as she was still ill last year.  Another recurrence of rhado this year prompted the bx (she is retired military).  I don't know which branch of medicine to contact for genetic testing. From  the NIH website, muscle bx is the most definitive.  I also found a phone number for the Genetics and Rare Diseases Information Center.  Thank you for some direction.

Summarized question: Where can I get genetic testing for CPTII deficiency?