Collect 25 mg of skeletal muscle. At the time of collection, place 1 piece of fresh muscle in a sterile container, on saline moist gauze.
To freeze tissue, place 1 piece of muscle in each cassette and freeze in liquid nitrogen.
Unacceptable Conditions
Thawed specimens, specimens without proper identifier, or requisition form missing required data.
Storage/Transport Temperature
Specimens should be sent to the lab immediately. Frozen tissue must be stored at -80°C and shipped overnight on 3-5 lbs of dry ice for recipient Monday through Friday if shipping from the outside. Specimens cannot be received on weekends.
Remarks
The mtDNA Content Analysis can be ordered for individuals suspected with mitochondrial DNA depletion syndromes.
Volume Required
25mg muscle tissue
Minimum Required
5 mg muscle tissue or 150 ng (and 15ng/ul) of DNA
Phlebotomy Draw
No
Clinical Features
Mitochondrial DNA depletion syndromes are a group of disorder characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. These conditions are phenotypically heterogenous, may affect either a specific organ or a combination of organs, including muscle, liver, brain, and kidney. They are classified as 4 forms clinically: myopathic, encephalomyopathic, hepatocerebral and neurogastrointestinal [El-Hattab 2013, PMID: 23385875]. See https://www.chop.edu/conditions-diseases/mitochondrial-depletion-syndrome for more information.
Ordering Recommendations
This test can be ordered to evaluate whether there is increased or decreased amount of mtDNA in the specimen.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday, 9:00am - 4:00pm
Methodology
Droplet digital PCR (ddPCR)
Reported
28 days
Detection Rate
Due to the quantitative nature of this assay, this measure is not applicable to this assay.
Utility
The clinical utility of this test is to assess the mtDNA content in the specimen to facilitate the diagnosis of mitochondrial DNA depletion syndrome. This test result should be interpreted with the patient’s medical history, family history, and genetic test results, such as exome sequencing.
Droplet digital PCR (ddPCR) is performed to quantify the relative amount of mtDNA compared to nuclear DNA in the specimen and then compared to the mean value of the age-matched control group.
CPT Codes
81479
Collection
Collect
Collect 25 mg of skeletal muscle. At the time of collection, place 1 piece of fresh muscle in a sterile container, on saline moist gauze.
To freeze tissue, place 1 piece of muscle in each cassette and freeze in liquid nitrogen.
Unacceptable Conditions
Thawed specimens, specimens without proper identifier, or requisition form missing required data.
Storage/Transport Temperature
Specimens should be sent to the lab immediately. Frozen tissue must be stored at -80°C and shipped overnight on 3-5 lbs of dry ice for recipient Monday through Friday if shipping from the outside. Specimens cannot be received on weekends.
Remarks
The mtDNA Content Analysis can be ordered for individuals suspected with mitochondrial DNA depletion syndromes.
Volume Required
25mg muscle tissue
Minimum Required
5 mg muscle tissue or 150 ng (and 15ng/ul) of DNA
Phlebotomy Draw
No
Ordering
Clinical Features
Mitochondrial DNA depletion syndromes are a group of disorder characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. These conditions are phenotypically heterogenous, may affect either a specific organ or a combination of organs, including muscle, liver, brain, and kidney. They are classified as 4 forms clinically: myopathic, encephalomyopathic, hepatocerebral and neurogastrointestinal [El-Hattab 2013, PMID: 23385875]. See https://www.chop.edu/conditions-diseases/mitochondrial-depletion-syndrome for more information.
Ordering Recommendations
This test can be ordered to evaluate whether there is increased or decreased amount of mtDNA in the specimen.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday, 9:00am - 4:00pm
Methodology
Droplet digital PCR (ddPCR)
Reported
28 days
Detection Rate
Due to the quantitative nature of this assay, this measure is not applicable to this assay.
Utility
The clinical utility of this test is to assess the mtDNA content in the specimen to facilitate the diagnosis of mitochondrial DNA depletion syndrome. This test result should be interpreted with the patient’s medical history, family history, and genetic test results, such as exome sequencing.
Droplet digital PCR (ddPCR) is performed to quantify the relative amount of mtDNA compared to nuclear DNA in the specimen and then compared to the mean value of the age-matched control group.
