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2011: RRM2B - Encephalomyopathic Mitochondrial Depletion Syndrome, AD‐PEO

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Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
2011 RRM2B 3 weeks $920.00 $1,020.00 81405 81479
Encephalomyopathic Mitochondrial Depletion Syndrome with renal tubulopathy, AD-PEO

Selecting the Appropriate Sample Type

Conditions/Phenotypes:

1. M itochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) (OMIM 612075)

2. Mitochondrial DNA depletion syndrome 8B (MNGIE type) (OMIM 612075)

3. Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 (OMIM 613077)

 

Methodology:

Sequencing Analysis

Specimen requirements:

Acceptable specimen types for this test: Whole blood, saliva, buccal swabs, culture cells, muscle tissue.

See more details on sample requirements here