Mitochondrial DNA Point Mutations and Deletions Screening Panel

Sunquest Code:MTDNA  
Epic Code:LAB3624Epic Name:Mitochondrial DNA PT MUTand Deletions
Methodology:Massively parallel sequencing
Test Includes:36 common mitochondrial DNA mutations in 17 mitochondrial genes
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur before 1300; results are reported within 28 days.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. A completed requisition form must accompany each sample. See Associated Links for both forms.
Associated Links:

Genetic Testing Consent Form, Baylor Requisition Form

Collection Instructions

Specimen:Blood or muscle tissue
Optimal Volume:5 mL blood ; 3 mL for children under 2 years of age; 1 gm muscle tissue
Minimum\Peds Volume:3 mL blood, 3 mL for children under 2 years of age; 50 mg muscle tissue
Container:Purple (EDTA)
Collection Instructions:Collect blood in purple (EDTA) tube.

Processing and Shipping

Specimen Processing:Store whole blood at room temperature; store muscle tissue in freezer.
Shipping Instructions:Ship blood at room temperature. Ship muscle tissue on dry ice. Must arrive Monday through Friday within 24 hours of collection..
Test Performed at or Referral Lab Lab Sendouts  (Baylor College of Medicine)
Referral Lab number:2010


Reference Range:Interpretive report.

36 point mutations in 17 mitochondrial genes are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. Heteroplasmic point mutations as low as 1.5% can be detected. These mutations have been associated with cardiomyopathy, CPEO, deafness and/or diabetes, Kearns-Sayre Syndrome, Leigh./Leigh-like, LHON, MELAS,  MERRF, Mitochondrial DNA Multiple Deletions Syndrome, NARP, and Pearson Marrow/Pancreas Syndrome.


In general, this test can detect mtDNA mutations in at least 85% of patients with primary mtDNA defect.


Click HERE to Report test errors or omissions.
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