3001965
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Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS

MTDNA NGS
Example Reports
Enhanced Report
Negative
Positive

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Patient History For Molecular Genetic Testing

Ordering Recommendation

Assess for sequence variants in the mitochondrial genome (mtDNA) causing mitochondrial disorders, especially for individuals with clinical symptoms characteristic of a specific disorder, such as leber hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and neurogenic weakness with ataxia and retinitis pigmentosa (NARP).

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (K2 or K3EDTA). Also acceptable: Buccal swabs.

Specimen Preparation

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 Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

21-28 days

Reference Interval

By report

Interpretive Data



Compliance Category

Performed by non-ARUP Laboratory

Note

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
09/05/2023
X
X
N/A

CPT Codes

81460; 81465

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Components

Component Test Code* Component Chart Name LOINC
3001966 EER Mito Disorders, mtDNA, Seq/Del 11526-1
3001967 Mito Disorders, mtDNA, Seq/Del 40995-3
* 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

  • cblJ Type
  • Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
  • Maternally Inherited Diabetes Mellitus (MIDM)
  • Lactic acidosis
  • Lebers Hereditary Optic Neuropathy (LHON)
  • Complex III Deficiency
  • Complex IV(Cytochrome C Oxidase) Deficiency
  • Complex V (ATP Synthesis) Deficiency
  • Diabetes and Hearing Loss
  • Kearns-Sayre Syndrome (KSS)
  • Maternally Inherited Diabetes/Deafness (MIDD)
  • Methylmalonic Aciduria and Homocystinuria
  • Myoclonic Epilepsy Ragged-Red Fibers (MERRF)
  • Maternally Inherited Deafness
  • Pearson Syndrome
  • Sensorineural Hearing Loss (SNHL)
  • Mitochondrial Encephalomyopathy (Lactic Acidosis and Stroke-Like Episodes) (MELAS)
  • Mitochondrial Myopathy (MM)
  • Aminoglycoside-Induced Deafness
  • Chronic Progressive External Ophthalmoplegia (CPEO)
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
  • Coenzyme Q10 Deficiency
  • Complex I Deficiency
  • Neurogenic Weakness Ataxia and Retinitis Pigmentosa (NARP)
  • Optic Atrophy
  • Oxidative Phosphorylation (OXPHOS) Deficiency
Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS

GeneDx