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2005: POLG1

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Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
2005 POLG 3 weeks $1,720.00 $1,820.00 81406 81406
(Alpers, PEO, SANDO, POLG-Related Disorders)

Selecting the Appropriate Sample Type

Conditions/Phenotypes:

1.  Progressive external ophthalmoplegia, autosomal dominant (OMIM   157640)

2.  Progressive external ophthalmoplegia, autosomal recessive (OMIM 258450)

3.  Mitochondrial DNA depletion syndrome 4A (Alpers type) (OMIM 203700)

4. Mitochondrial DNA depletion syndrome 4B (MNGIE type) (OMIM 613662)

5. Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) (OMIM 607459)

 

POLG1 resources

GTR: POLG
NIH: Mitochondrial DNA Replication Group - a list of selected publications from the Copeland lab
GENEREVIEWS: POLG-Related Disorders

 

Specimen requirements:


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

See more details on sample requirements here