MCAD Deficiency

Acronym: MCAD
Gene: ACADM
Mutation: c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG
Inheritance: Autosomal recessive
Sample type: CHS (Cheek Swab), WBE (Whole Blood EDTA)


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CAVALIER KING CHARLES SPANIEL