Mitochondrial DNA Point Mutations and Deletions Screening Panel

Abbrev Code:MTDNA   
Order Code:LAB3624Order Name:Mitochondrial DNA PT MUTand Deletions
Methodology:Massively parallel sequencing
CPT Codes: 81465 x1
Test Includes:36 common mitochondrial DNA mutations in 17 mitochondrial genes
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur before 1600; 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.

Time Sensitive Handling Required:
Specimen must be at the East Bank Sendouts lab no later than 1600. Order On-Time Delivery courier to deliver directly to East Bank Sendouts lab. Call Sendouts at 612-273-3711 to notify.
CSC and West Only: Send in red STAT bag by Associated courier. Call Sendouts at 612-273-3711 to notify.
Associated Links:

Genetic Testing Consent Form, Baylor Genetics 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. Tissue: Skeletal muscle or tissue should be flash frozen in liquid nitrogen at collection with no media added, stored at -80°C.
Shipping Instructions:Ship blood at room temperature. Ship muscle tissue on dry ice. Must arrive at testing site 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 Pearso Marrow/Pancreas Syndrome.

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

Click HERE to Report test errors or omissions.
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