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Test ID MITOP Mitochondrial Full Genome Analysis by Next-Generation Sequencing (NGS), Varies

Shipping Instructions

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

Necessary Information

Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 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).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Supplies: Muscle Biopsy Kit (T541)

Specimen Type: Muscle Tissue biopsy

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

Specimen Volume: 10-80mg

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


Specimen Type: Snap Frozen Nerve Tissue Biopsy

Collection Instructions: Prepare snap frozen tissue biopsy per surgical procedure

Specimen Volume: 0.25-0.5 cm

Specimen Stability Information: Frozen


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Specimen Type: Blood spot

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Ahlstrom 226 filter paper or Supplemental Newborn Screening Card

Specimen Volume: 2 to 5 Blood Spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year of age is finger stick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Neurology Specialty Testing Client Test Request (T732)

-Inborn Errors of Metabolism Test Request (T798)

Useful For

Diagnosis of the subset of mitochondrial diseases that results from mutations in the mitochondrial genome


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


Identifying mutations within genes of the mitochondrial genome that are known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members


Next-generation sequencing (NGS) is used to test for the presence of mutations within the mitochondrial genome (includes 13 protein coding genes, 22 tRNA genes, and 2 rRNA genes).


Large deletions within the mitochondrial genome are first detected by gel electrophoresis (as size-shifted PCR bands), and the locations of the deletions in the mtDNA are then determined from the Illumina NGS data.


This assay is only useful for detecting mitochondrial genomic mutations. Depletion of mitochondrial DNA levels or mutations in mitochondrial genes encoded by the nuclear genome is not within the scope of this assay.

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.


The following algorithms are available in Special Instructions:

-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm

-Neuromuscular Myopathy Testing Algorithm

Method Name

Long-Range Polymerase Chain Reaction (L-RPCR) followed by Next-Generation Sequencing (NGS)

Reporting Name

Mitochondrial Full Genome Analysis

Specimen Type


Specimen Minimum Volume

Blood: 1 mL
Muscle tissue biopsy: 20 mg
Nerve tissue biopsy: See Specimen Required.
Blood Spots: 5 punches-3 mm diameter

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics 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

81465-Whole Mitochondrial Genome Large Deletion Analysis

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MITOP Mitochondrial Full Genome Analysis In Process


Result ID Test Result Name Result LOINC Value
55281 Result Summary 50397-9
55282 Result 82939-0
55283 Interpretation 69047-9
55284 Additional Information 48767-8
55285 Specimen 31208-2
55286 Source 31208-2
55287 Released By 18771-6

NY State Approved