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1007: mtDNA common mutation screen

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Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
1007 mtDNA common mutation screen 3 weeks $1,290.00 $1,390.00 81402 81479
mtDNA positions: 583 G>A, 1494 C>T, 1555 A>G, 1606 G>A, 3243 A>G, 3256 C>T, 3260 A>G, 3271 T>C, 3291 T>C, 3302 A>G, 3303 C>T, 3460 G>A, 3635 G>A, 3697 G>A, 3700 G>A, 3733 G>A, 4171 C>A, 4298 G>A, 4300 A>G, 4308 G>A, 4332 G>A, 5537 A>AT, 5650 G>A, 5703 G>A, 7445 A>G, 7471C>CC, 7497 G>A, 7511 T>C, 8344A>G, 8356 T>C, 8363 G>A, 8993 T>C, 8993 T>G, 9176 T>C, 9176 T>G, 9185 T>C, 10010 T>C, 10158 T>C, 10191 T>C, 10197 G>A, 10663 T>C, 11777 C>A, 11778 G>A, 12147 G>A, 12315 G>A, 12706 T>C, 13513 G>A, 13514 A>G, 14459 G>A, 14482 C>G, 14482 C>A, 14484 T>C, 14487 T>C, 14495 A>G, 14568 C>T, 14674 T>C, 14709 T>C

Selecting the Appropriate Sample Type

 

Screening for 57 confirmed mtDNA mutations: 583 G>A, 1494 C>T, 1555 A>G, 1606 G>A, 3243 A>G, 3256 C>T, 3260 A>G, 3271 T>C, 3291 T>C, 3302 A>G, 3303 C>T, 3460 G>A, 3635 G>A, 3697 G>A, 3700 G>A, 3733 G>A, 4171 C>A, 4298 G>A, 4300 A>G, 4308 G>A, 4332 G>A, 5537 A>AT, 5650 G>A, 5703 G>A, 7445 A>G, 7471C>CC, 7497 G>A, 7511 T>C, 8344A>G, 8356 T>C, 8363 G>A, 8993 T>C, 8993 T>G, 9176 T>C, 9176 T>G, 9185 T>C, 10010 T>C, 10158 T>C, 10191 T>C, 10197 G>A, 10663 T>C, 11777 C>A, 11778 G>A, 12147 G>A, 12315 G>A, 12706 T>C, 13513 G>A, 13514 A>G, 14459 G>A, 14482 C>G, 14482 C>A, 14484 T>C, 14487 T>C, 14495 A>G, 14568 C>T, 14674 T>C, 14709 T>C

 

 

Specimen requirements are listed in order of preference below:

  • Combination of frozen muscle and a urine sample: 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. Tissue Samples must be flash frozen and shipped on dry ice by overnight courier. Please call the laboratory prior to sending any tissue sample. Urine sediment has been shown to give the next highest heteroplasmy level for the 3243 mutation and to be a better clinical predictor of clinical outcome than muscle heteroplasmy for the 3243 mutation. Testing of a urine sample is strongly recommended for 3243 testing.
  • Combination of a blood sample and urine sample: In cases where a muscle sample is not available the test can be performed using blood specimens drawn in a lavender top (EDTA) tube (1-3 cc for children, 4-10 for adults). Blood samples should be sent to Mitomed by overnight courier at room temperature as soon as possible after being drawn. If the specimen can not be sent immediately, it should be stored refrigerated at 4 degrees C. The blood specimen must not be stored for more than 3 days at 4 degrees C. Urine sediment has been shown to give the next highest heteroplasmy level for the 3243 mutation and to be a better clinical predictor of clinical outcome than muscle heteroplasmy for the 3243 mutation. Testing of a urine sample is strongly recommended for 3243 testing.
  • Blood sample only: If neither a muscle nor urine sample are available, the test can be performed using blood specimens drawn in a lavender top (EDTA) tube (1-3 cc for children, 4-10 for adults). Blood samples should be sent to Mitomed by overnight courier at room temperature as soon as possible after being drawn. If the specimen can not be sent immediately, it should be stored refrigerated at 4 degrees C. The blood specimen must not be stored for more than 3 days at 4 degrees C.

 

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:

MELAS

MERRF

mtDNA asociated Leigh syndrome and NARP

LHON

Aminoglycoside induced hearing loss

REFERENCE: Mitomap