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1008: mtDNA Single Mutation Test

Order this test

Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
1008 Known Familial mutation 3 weeks $290.00 $390.00 81400 81403
Use test code 11001

Selecting the Appropriate Sample Type

Single mtDNA point mutation analysis for any of the mutations offered in the common deletion screen.

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:



mtDNA asociated Leigh syndrome and NARP


Aminoglycoside induced hearing loss