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1004: mtDNA neuromuscular mutation panel

Order this test

Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
1004 mtDNA neuromuscular mutation panel 3 weeks $720.00 $820.00 81403 81479
MERRF and MELAS: mtDNA positions 583 G>A, 3243 A>G, 3256 C>T, 3271 T>C, 3291 T>C, 3697 G>A, 4332 G>A, 8344 A>G, 8356 T>C, 8363 G>A, 12147 G>A, 13513 G>A, and 13514 A>G

Selecting the Appropriate Sample Type

Post-mitotic tissues confer a higher detection rate for mitochondrial DNA mutations than blood samples. Muscle or tissue samples are, therefore, strongly preferred for the majority of mitochondrial DNA assays. If a tissue sample is not available, please send a tube of blood and a urine sample for A3243G testing.

About Mitochondrial Disorders

For more information about mitochondrial disorders, please visit the mitochondrial disease overview profile on Genetests.

For more specific information based on clinical presentation, please visit these listings: