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HelpMitochondrial DNA Screen (MELAS, MERRF, and tRNA genes: isoleucine, glutamine, and methionine)
Collection Requirements
Source: urine
Container: sterile cup
Collection volume: minimum 1 mL
Turn Around Time
14 days
Availability
Routine
Lab Processing Instructions
Specimen: urine
Refrigerate
Performing Laboratory
Adele Hall
Adele Hall Lab Section
Molecular Genetics
Instrumentation/Methodology
Sanger sequencing of the mitochondrial tRNA genes: leucine (TL1), lysine (TK), isoleucine (TI), glutamine (TQ), and methoionine
Additional Information
Mitochondrial disorders present with a wide variety of symptoms. Some mitochondrial disorders only affect a single organ, but many involve multiple organ systems and often present with prominent neurological and myopathic features. Mitochondrial myopathy can be the primary clinical presentation in patients with mtDNA tRNA mutations.
Reference Ranges
See interpretive report
CPT
81460