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Robert Gutherie Exercise Intolerance Mutation Panel
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Test Code
NMCP002
CPT Codes
"81401 x 3 "
Preferred Specimen
10 mL EDTA blood
Transport Temperature
Shipped at room temperature
Reference Range
"
Mutation Profile
Mutation
Frequency of
Mutant Alleles (%)
Exercise Intolerance (8 mutations)
? Carnitine Palmitoyltransferase II deficiency
? Myophosphorylase Deficiency
? Myoadenylate Deaminase Deficiency
S113L
Q413fs
P50H
G549D
Mutation Profile
Mutation
Frequency of
Mutant Alleles (%)
Exercise Intolerance (8 mutations)
? Carnitine Palmitoyltransferase II deficiency
? Myophosphorylase Deficiency
? Myoadenylate Deaminase Deficiency
S113L
Q413fs
P50H
G549D
