Collect 2-3 mL whole blood in a purple top (EDTA) tube.
Other acceptable sample types: saliva and buccal (please call 267-426-1447 for kits), fresh or flash-frozen tissues, cultured fibroblasts, extracted DNA (300ng-1ug of 25ng/µl DNA), urine (100ml fresh collected urine).
Unacceptable Conditions
Regarding Blood Specimens: Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Please call 6-1447 with any questions regarding non-blood specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Remarks
The Targeted mtDNA Analysis test (also known as mitochondrial known variant testing) should be ordered on individuals with sequencing variants and indels <20 bps. MtDNA deletions are not suitable for this test. If you would like to evaluate for a known mtDNA deletion, please order MitoGenome Seq+Del (https://www.testmenu.com/chop/Tests/942739).
Volume Required
3 mL whole blood or 1µg DNA
Minimum Required
2 mL whole blood or 300ng DNA
Phlebotomy Draw
Yes
Clinical Features
Clinical features associated with known mtDNA variant testing are dependent on the specific variant for which testing is being performed.
Ordering Recommendations
Order Targeted mtDNA Analysis to assess for the presence and/or heteroplasmy level of a targeted mtDNA sequence variant in additional proband sample types, or to assess for the presence and/or heteroplasmy levels of a targeted mtDNA sequence variant in other maternal family members.
Targeted mtDNA Analysis – Lab Requested is to be ordered on occasions when the lab has requested additional testing of other proband tissues or maternal family members to aid in variant analysis. Please contact dgdgeneticcounselor@chop.edu for questions regarding this option.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday, 9:00am - 4:00pm
Methodology
Long-range PCR, Next Generation Sequencing
Reported
28 days
Detection Rate
The analytical sensitivity for sequencing is close to 100%.
Utility
The clinical utility of this assay is to aid in interpretation of variants previously identified in the Genomic Diagnostics Laboratory, confirm a clinical diagnosis, facilitate pre-symptomatic testing of at-risk relatives, rule out a diagnosis in individuals with limited expression of disease, confirm the need for clinical surveillance in patients positive for a mutation, and/or facilitate prenatal diagnosis.
Synonyms
TMTSC
TMTSN
known variant, known mutation, targeted variant, targeted sequencing
LIS Mnemonic
TMTSC
Available STAT
No
Test Notes
Sequence analysis of a mtDNA variant previously identified in a family member will be performed.
If the variant was previously identified through an outside laboratory, a copy of the original test report and a positive control sample from the individual in whom the variant was originally identified is requested. The Genomic Diagnostics Laboratory may not be able to facilitate testing of all variants identified through other laboratories. Please contact the laboratory for additional questions regarding this testing.
CPT Codes
81479
Collection
Collect
Collect 2-3 mL whole blood in a purple top (EDTA) tube.
Other acceptable sample types: saliva and buccal (please call 267-426-1447 for kits), fresh or flash-frozen tissues, cultured fibroblasts, extracted DNA (300ng-1ug of 25ng/µl DNA), urine (100ml fresh collected urine).
Unacceptable Conditions
Regarding Blood Specimens: Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Please call 6-1447 with any questions regarding non-blood specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Remarks
The Targeted mtDNA Analysis test (also known as mitochondrial known variant testing) should be ordered on individuals with sequencing variants and indels <20 bps. MtDNA deletions are not suitable for this test. If you would like to evaluate for a known mtDNA deletion, please order MitoGenome Seq+Del (https://www.testmenu.com/chop/Tests/942739).
Volume Required
3 mL whole blood or 1µg DNA
Minimum Required
2 mL whole blood or 300ng DNA
Phlebotomy Draw
Yes
Ordering
Clinical Features
Clinical features associated with known mtDNA variant testing are dependent on the specific variant for which testing is being performed.
Ordering Recommendations
Order Targeted mtDNA Analysis to assess for the presence and/or heteroplasmy level of a targeted mtDNA sequence variant in additional proband sample types, or to assess for the presence and/or heteroplasmy levels of a targeted mtDNA sequence variant in other maternal family members.
Targeted mtDNA Analysis – Lab Requested is to be ordered on occasions when the lab has requested additional testing of other proband tissues or maternal family members to aid in variant analysis. Please contact dgdgeneticcounselor@chop.edu for questions regarding this option.
Performing Lab
Division of Genomic Diagnostics
Performed
Monday-Friday, 9:00am - 4:00pm
Methodology
Long-range PCR, Next Generation Sequencing
Reported
28 days
Detection Rate
The analytical sensitivity for sequencing is close to 100%.
Utility
The clinical utility of this assay is to aid in interpretation of variants previously identified in the Genomic Diagnostics Laboratory, confirm a clinical diagnosis, facilitate pre-symptomatic testing of at-risk relatives, rule out a diagnosis in individuals with limited expression of disease, confirm the need for clinical surveillance in patients positive for a mutation, and/or facilitate prenatal diagnosis.
Synonyms
TMTSC
TMTSN
known variant, known mutation, targeted variant, targeted sequencing
LIS Mnemonic
TMTSC
Available STAT
No
Test Notes
Sequence analysis of a mtDNA variant previously identified in a family member will be performed.
If the variant was previously identified through an outside laboratory, a copy of the original test report and a positive control sample from the individual in whom the variant was originally identified is requested. The Genomic Diagnostics Laboratory may not be able to facilitate testing of all variants identified through other laboratories. Please contact the laboratory for additional questions regarding this testing.
