CXR, EKG, Echo (Including relatives - as needed)
Urine for UA, Aminoacids and Organic acids (including 3-methyl glutaconic acid)
Blood:
CBC, Diff
Electrolytes (incl. Gluc, Ca, Mg)
LFT
Copper, Selenium
Lactate, Pyruvate (simultaneous)
Cholestrol
TFT
Plasma aminoacids
CPK, Troponin
Carnitine & Acyl carnitine profile
ESR
Pro-BNP or BNP
Viral PCR (Adeno, Cox sackie A-B, Influenza A-B, Echo, EBV, Herpes, Rhino, Parvo)
When appropriate...:
Blood for Cytogenetics
Skeletal muscle biopsy - Histology, EM, Mitochondrial respiratory chain analysis, Acyl CoA DH analysis
Endomyocardial biopsy - Histology, EM, PCR for viral genome, Mitochondrial respiratory chain analysis
Blood for cell lines
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