Search our extensive Laboratory Test Directory to find test codes, ordering recommendations, specimen stability information, Test Fact Sheets, and more.
Recommendations when to order or not order the test. May include related or preferred tests.
Preferred test to confirm a suspected diagnosis of a mitochondrial disorder caused by a mitochondrial genome (mtDNA) sequence variant or variant(s) in related nuclear genes. Test not indicated for disorders commonly caused by large deletions in the mtDNA (eg, chronic progressive external ophthalmoplegia [CPEO], Kearns-Sayre syndrome [KSS], and Pearson syndrome).
New York DOH Approval Status
Indicates whether a test has been approved by the New York State Department of Health.
This test is New York state approved.
Specimen Required
Patient PreparationInstructions patient must follow before/during specimen collection.
CollectSpecimen type to collect. May include collection media, tubes, kits, etc.
Lavender (K2 or K3EDTA). Also acceptable: Buccal swabs (GeneDx kit).
Specimen PreparationInstructions for specimen prep before/after collection and prior to transport.
Transport 5 mL whole blood (Min: 2 mL) or 2 buccal swabs. (Min: 2 swabs) Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.
Storage/Transport TemperaturePreferred temperatures for storage prior to and during shipping to ARUP. See Stability for additional info.
Refrigerated.
Unacceptable ConditionsCommon conditions under which a specimen will be rejected.
RemarksAdditional specimen collection, transport, or test submission information.
Clinical indication for ordering and ICD-10 codes are required.
StabilityAcceptable times/temperatures for specimens. Times include storage and transport time to ARUP.
The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Other names that describe the test. Synonyms.
Lebers Hereditary Optic Neuropathy (LHON)
Leigh Syndrome
Mitochondrial DNA Depletion Syndrome
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
Spastic Ataxia
Mitochondrial Disorders Panel (mtDNA and Nuclear Genes)
Connect Sign In
