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Test Code MITOT Combined Mitochondrial Analysis, Mitochondrial Full Genome and Nuclear Gene Panel

Shipping Instructions

Ambient blood is preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.


Submit only 1 of the following specimens:


Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 full T-75 or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours


Supplies: Fibroblast Biopsy Transport Media (T115)

Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Supplies: Muscle Biopsy Kit (T541)

Specimen Type: Tissue biopsy

Collection Instructions: Prepare and transport specimen per instructions in Muscle Biopsy Specimen Preparation Sheet in Special Instructions.

Additional Information: Muscle Biopsy Shipping Kits (T541) are available.

Specimen Volume: 10-80 mg

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated


Additional Information:

1. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

2. Prior Authorization is available for this assay; see Special Instructions. Submit the required form with the specimen.


1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Combined Mitochondrial Analysis Prior Authorization Ordering Instructions in Special Instructions

3. Molecular Genetics: Biochemical Disorders Patient Information (T527)

4. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (

Useful For

Diagnosis of mitochondrial disease that results from mutations in either nuclear-encoded genes or the mitochondrial genome


A second-tier test for patients in which previous targeted gene mutation analyses for specific mitochondrial disease-related genes were negative


Identification of mutations known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

If skin biopsy is received, fibroblast culture will be added and charged separately.

Method Name

Custom sequence capture and targeted next-generation sequencing (NGS) followed by polymerase chain reaction (PCR) and Sanger sequencing when appropriate for analysis of mitochondrial nuclear genes. Amplification of the entire mitochondrial genome by long-range polymerase chain reaction (LRPCR) followed by sequencing on both the Illumina and Ion Torrent next-generation sequencing (NGS) platforms.

Reporting Name

Combined Mitochondrial Analysis

Specimen Type


Specimen Minimum Volume

Blood: 1 mL
Tissue Biopsy: 200 mg

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

No specimen should be rejected.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Analytic Time

8 weeks

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test uses a standard method. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81460-Whole Mitochondrial Genome

81440-Nuclear Encoded Mitochondrial Genes

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MITOT Combined Mitochondrial Analysis In Process


Result ID Test Result Name Result LOINC Value
48346 Result Summary 50397-9
48347 Result-mtDNA Genome Analysis In Process
35857 Result-Mitochondrial Nuclear Genes In Process
48348 Interpretation In Process
48349 Additional Information 48767-8
48350 Specimen 31208-2
48351 Source 31208-2
48352 Released By In Process